The common signs and symptoms of these diseases include mental retardation, convulsions, acidosis, vomiting, deafness and visual impairment, hepatomegaly and splenomegaly, recurrent infections, hair or skin abnormalities, etc. They are described separately by system: I. Neurological symptoms Among the various clinical manifestations, neurological symptoms are the most common ones, which include mental retardation, convulsive seizures, ataxia, dysarthria, dysarthria, altered muscle tone and uncinate The most common symptoms include intellectual disability, convulsive seizures, ataxia, dysarthria, dysarthria, dystonia and neuritis. 1, intelligent disorder Infantile onset of hereditary metabolic disease if not timely diagnosis and treatment, in addition to a small number of diseases, the majority will appear intelligent disorder, and often moderate to severe intelligent disorder. There are three degrees of mental retardation: mild: equivalent to an IQ of 50-70. Patients can recognize people, talk, sit and stand during infancy. However, the development of children of the same age is delayed, and not agile, to grow older, although they can take care of themselves and engage in simple labor, but poor learning acceptance, judgment, memory, the ability to learn lessons than children of the same age, personality and behavior are also different from normal children of the same age, to adulthood, their intelligence can only reach the level of normal children aged 7 to 12 years old. Moderate: equivalent to an IQ of 30-50. developmental backwardness, motor uncoordination, although learning language, but the progress is very slow, unclear spelling, vocabulary is poor, can recognize people, but the relationship is not clear; learning difficulties, poor thinking ability, after the intelligence of most stay at the level of 3-7 years old normal children. Severe: equivalent to IQ O-30. In the fetal period, pregnant women feel little fetal movement; in the neonatal period, they can find low crying, poor sucking power, low milk consumption; in infancy, they find mental dullness, dull response to environmental stimuli, significant delay in developmental processes such as head raising (vertical neck), sitting up, standing and walking; they cannot learn language and can only make monosyllabic sounds that do not form sentences; later on, although their intelligence progresses, they lag far behind their peers and do not respond appropriately to the outside world. They do not respond appropriately to the outside world and do not avoid or defend themselves from the dangers or injuries they may encounter in their daily lives, and their intelligence stops at the level of normal children under the age of 3. The World Health Organization estimates that about 10% of patients with severe mental retardation are caused by inherited abnormalities in amino acid metabolism. A large number of surveys conducted in Western Europe and the United States have shown that the incidence of mental retardation caused by hereditary abnormalities of amino acid metabolism is about 1:6000 of all births. Among the hereditary amino acid metabolic disorders, except for urinic aciduria, albinism and benign hyperphenylalaninemia, which are not associated with mental retardation, they are generally associated with severe mental retardation, including phenylketonuria, maple glycosuria, hyper This includes phenylketonuria, maple glycosuria, hyperhistidinemia, homocystinuria, tyrosinemia, and so on. Phenylketonuria is the most common cause. The Soviet Union counted 5,662 patients with severe mental retardation, 28.4% of which were genetic defects. Of these, 20 percent were caused by phenylketonuria. (1) There are no obvious abnormalities at birth. (2) Neurological symptoms appear only after a number of hours (days or weeks) after the start of feeding. (3) With age, the head circumference becomes increasingly smaller than that of a normal child, with progressive impairment of intellectual development. (4) Pathological anatomy shows brain dysplasia. (5) With early diagnosis and timely administration of appropriate dietary treatment, most patients can develop without brain parenchymal damage and normal intellectual development. There are also many cases of disorders of glucose and lipid metabolism that can cause intellectual disability, such as galactosemia, various types of mucopolysaccharide deposition disease, Niemann’s disease, GM1 and GM2 ganglioside deposition disease, fucose deposition disease, mannose deposition disease, etc. A group of 240 pediatric cases with moderate to severe mental retardation were reported in China, and 15% of the prenatal factors analyzed were caused by disorders of glycolipid metabolism. These disorders are characterized by: (1) specific intracellular deposits. (2) The deposits are vacuolated, that is, they are surrounded by membranes, and their ultrastructure can be revealed by electron microscopy. (3) The intellectual impairment is progressive in nature. (4) Enzyme replacement therapy is at least theoretically possible to stop the progression of the disease. 2. Convulsions Convulsions are a common and important manifestation of many inherited metabolic diseases. The main ones characterized by convulsions are neurosphingolipidosis and hypoglycemia and hyperammonemia due to abnormal amino acid metabolism. Neurosphingolipidosis is caused by the deposition of sphingolipids in the cells due to insufficient hydrolase activity in the lysosomes. The diseases belonging to this group include Krabbe’s disease, GM2 ganglioside deposition disease, Niemann-Pick disease infant type and Gaucher’s disease infant type. Convulsions caused by abnormal amino acid metabolism are often due to hypoglycemia and hyperammonia. The diseases belonging to this category include methylmalonic aciduria, propionic aciduria, maple glycosuria, hyperammonemia type I, etc. Convulsions caused by these diseases occur mostly in the neonatal period, so some hospitals routinely check blood glucose, blood ammonia and carbon dioxide binding capacity in addition to blood calcium in patients with neonatal convulsions. Phenylketonuria usually does not present with convulsions in the neonatal period, but with seizures after 3 to 4 months. Other convulsions are caused by hyponatremia. This is represented by the loss-of-salt congenital adrenocortical hyperplasia due to 21 hydroxylase defect, which usually occurs at the end of the first week of life. If unrecognized and untreated, it can lead to severe water-electrolyte imbalance and death. In female children, the diagnosis is often helped by the masculinization of the vulva. Glucose metabolism abnormalities appearing in convulsions are galactosemia, glycogen synthase deficiency, type l gluconeogenic metabolic disease, etc. The mechanism is also due to brain damage caused by hypoglycemia. Ataxia caused by hereditary metabolic diseases can be divided into two categories: intermittent acute and chronic progressive ataxia. The diseases that cause intermittent acute ataxia include legacy ataxia capillaris, hyperalaninemia, intermittent maple glycosuria, tryptophan transport abnormalities and congenital hyperammonemia. Diseases causing chronic progressive ataxia include Refsum’s disease, B-lipoprotein free disease, heterozygous cerebral leukodystrophy, extracortical axonal dysplasia, juvenile form of aminohexosidase deficiency, lactosyl sphingomyelin excess and lipofuscinosis. 4, muscle tone changes can be divided into hypotonia, myotonia and myoclonus. Genetic metabolic diseases that cause hypotonia include GMl and GM2 ganglioside deposition disease, waxy lipofuscinosis, Niemann’s disease, Farber’s disease, fucose deposition disease and heterozygous cerebral leukodystrophy, Duchenne type progressive myotonic dystrophy, etc. Diseases causing increased muscle tone include spherocytic leukodystrophy, Gaucher’s disease, adrenoleukodystrophy, mucopolysaccharidosis type VI and hepatomegaly. Some diseases that originally caused hypotonia can show increased myoclonus in some individuals. The diseases that cause myoclonus basically overlap with the diseases that cause convulsions, and they sometimes have generalized convulsions as the main manifestation, and sometimes can only show myoclonus. Some genetic metabolic diseases can show lethargy, such as GM1, GM3 ganglioside deposition disease, maple glycosuria, hyperlysinemia, alaninemia, twisted hair syndrome, congenital lactic acidosis, methylmalonic aciduria, arginine substituted succinic aciduria, ornithine carbamoyl phosphate transferase deficiency (hyperammonemia type I), carbamoyl phosphate synthetase deficiency (hyperammonemia type I), guanosineemia, etc. type I>, guanosineemia, etc. 6, peripheral neuritis can be seen in mucopolysaccharide deposition disease type I, II, VI, mucolipid deposition disease type I, III, heterozygous cerebral leukodystrophy, Fabry’s disease, a lipoprotein deficiency, spherocytic cerebral leukodystrophy infant type, Niemann’s disease infant type, Refsum’s disease, central nervous system spongiform degeneration. Acute intermittent porphyria, etc. Digestive symptoms caused by hereditary metabolic diseases are second only to the neurological symptoms. They are often manifested as vomiting, diarrhea, hepatomegaly or splenomegaly, xanthogranuloma, large tongue, etc. 1. Vomiting: Vomiting is often a manifestation of hereditary metabolic disease in the neonatal period, and usually occurs only after breastfeeding. If vomiting starts soon after birth without digestive tract abnormalities, a hereditary metabolic disease must be considered a possibility. In particular, in the presence of protein intolerance, vomiting occurs in almost every case right after the start of feeding. Defects in one of the five enzymes of the urea cycle may also cause vomiting and hyperammonemia. The main diagnostic indicator is a significant increase in blood ammonia levels after eating a protein diet, but in the absence of food and prolonged intravenous rehydration. The increase in ammonia is not significant and vomiting stops. Organic acid metabolism disorders can also cause vomiting, they are methylmalonic aciduria, propionic acidemia, iso戍酸血症, etc.. The common feature is the presence of severe metabolic acidosis, some with neutropenia and thrombocytopenia. Phenylketonuria can also manifest itself as vomiting in the neonatal period, even in nearly half of the children. In this case, a blood phenylalanine test or a urine test for ferric chloride should be performed to determine the presence or absence of phenylketonate in the urine. However, it is important to note that the above biochemical abnormalities in blood and urine can only be measured if the child has been on a protein diet for more than 48 hours, and an increase in serum phenylalanine must precede the appearance of urinary phenylpyruvic acid. Children with congenital adrenocortical hyperplasia with salt loss often present with unexplained vomiting, and it is not difficult to make a clinical diagnosis if dehydration, external genital abnormalities and hyperpigmentation are also present. Inherited metabolic diseases that can cause vomiting include galactosemia, gluconeogenic metabolic disease type I, adrenoleukodystrophy, Wolman’s disease and kinked hair syndrome. 2. Diarrhea: Inherited metabolic diseases with diarrhea are less common. When newborns have unexplained diarrhea, galactosemia, pancreatic fibrocystic disease, small intestine disaccharidase deficiency, Wolman’s disease and tyrosinemia, Gaucher’s disease, primary fructose intolerance, etc. must also be considered. 3, jaundice: many inherited metabolic diseases are accompanied by jaundice, and most of their increased serum bilirubin is direct bilirubin, indicating that liver disease is more likely than hemolytic disease, these diseases include galactosemia, hereditary fructose intolerance, glycogen metabolic disease type IV, Wolman’s disease, and Niemann a pico disease type A, B. Jaundice can be caused by deficiencies in any of the five enzymes of the urea cycle, which are hyperammonemia type I and type 2, citrullinemia, arginine substituted succinic aciduria, and arginase deficiency. Some of the disorders of amino acid metabolism are also associated with yellow pox, such as maple enameluria, nonketogenic hyperglycinemia, hops ovenuria, hyperosminemia, and pyroglutaminemia. Other diseases that can cause jaundice include methylmalonic aciduria, propionic acidemia, B monomethylcrotonyl coenzyme A hydroxylase deficiency, twisted hair syndrome, rock candy deposition disease, and GM3 ganglioside deposition disease. Xanthogranuloma with predominantly elevated indirect bilirubin in the serum is seen in congenital erythrocyte enzyme defects such as glucose 6-monophosphate dehydrogenase deficiency and pyruvate kinase deficiency causing hemolytic disease. If indirect bilirubin is elevated in the serum without evidence of hemolysis, congenital nonhemolytic jaundice (Criglar-Najjar) syndrome due to partial or complete glucuronosyltransferase deficiency should be considered. There is also a1 antitrypsin deficiency that can cause jaundice, resembling neonatal hepatitis, although serum protein electrophoresis showing a1 globulin less than 2% can be differentiated. 4. Hepatomegaly or splenomegaly: Many inherited metabolic diseases are associated with hepatomegaly. They are divided into two categories depending on whether they are accompanied by functional impairment or cirrhosis. Only hepatomegaly without hepatic impairment includes GM1 ganglioside deposition disease type I (generalized type), Wolman’s disease, mucopolysaccharide deposition disease type I, I, I, IV, V, VII, mucolipid deposition disease type II, IV, Niemann’s disease, heterozygous cerebral leukodystrophy late infant type, Gaucher’s disease, hepatic hematoporphyria, primary hyperlipoproteinemia type I, type IV, V, a-lipoprotein deficiency, etc. Diseases with hepatomegaly and hepatic impairment or cirrhosis include glycogen metabolic disease types I, I, IV, VI, IX, and D, galactosemia, hepatomegaly, a1 antitrypsin deficiency, hereditary fructose intolerance, fructose 1.6 diphosphatase deficiency, and hereditary tyrosinemia. Diseases associated with hepatomegaly and splenomegaly include glycogen metabolic disease type IV, aquamarine histiocyte syndrome, Niemann-Pick disease, Gaucher disease, GM1 and GM2 ganglioside deposition disease, and mannose deposition disease. In addition, metabolic deficiency diseases with hepatomegaly include methylmalonic aciduria. Lysosomal acid phosphatase deficiency, ornithine transcarbamylase deficiency and argininosuccinic aciduria of urea cycle deficiency, B-glucosidase deficiency, hypermethioninemia and rock candy deposition disease, etc. 5, giant tongue: genetic metabolic disease caused by large and thick tongue are glycogen metabolic disease type II, alginate deposition disease, GM1 ganglioside deposition disease type I, GM3 ganglioside deposition disease. The latter two have gingival hyperplasia in addition to a giant tongue. Gingival hyperplasia is also associated with I-cell disease. The main symptoms of hereditary metabolic diseases in the hematopoietic system are anemia and hemorrhage. 1, anemia: erythrocyte energy production deficiency anemia diseases include adenosine triphospholipase deficiency, hereditary spherocytosis, hereditary elliptocytosis, pyruvate kinase deficiency, etc. Diseases associated with abnormal erythrocyte membrane anemia include glucose 6-phosphate dehydrogenase deficiency, glutathione synthetase deficiency, glutathione reductase deficiency, and glutathione peroxidase deficiency. Deficiencies of nutrients required for hematopoiesis include ferritin deficiency, cobalamin I deficiency, and dihydrofolate reductase deficiency. Diseases with abnormal hemoglobin anemia include methemoglobin reductase deficiency and hemoglobin M disease. The disorders of impaired hemoglobin synthesis anemia include primary hematoporphyria. In addition, there are also whey acidemia can also cause anemia. 2. Bleeding: Bleeding is caused by hemostasis and coagulation dysfunction. The hemostatic and coagulation mechanism is closely related to the capillary wall, platelets in the blood and various coagulation factors in the plasma. Abnormalities in any one of these factors can lead to bleeding tendencies of varying severity. The disorders causing bleeding tendency in hereditary metabolic diseases are as follows: (1) Capillary purpura: seen in hereditary hemorrhagic capillary dilatation, vascular pseudohemophilia, hereditary simple purpura, etc. (2) Platelet disorders: X-linked recessive inheritance includes Wiskoff-Aldrich syndrome and its variants, isolated thrombocytopenia, thrombocytopenia with IgA elevation and renal disorders, autosomal dominant inheritance includes thrombocytopenia, May-Hegglin anomaly, IIb Koln disease, etc.; autosomal recessive inheritance includes thrombocytopenia, May-Hegglin anomaly, IIb Koln disease, etc. The autosomal recessive genes include Bernard-Soulier syndrome, and thrombocytopenia as a manifestation of inherited metabolic diseases include cystathionuria, hyperglycinemia, methylmalonic aciduria, isovalinemia, etc. (3) Coagulation factor deficiency diseases: X-linked recessive inheritance includes hemophilia A and hemophilia B. Autosomal dominant inheritance includes Von Wille-brand disease and congenital abnormal fibrinogenemia; autosomal recessive inheritance includes antifibrinogenemia, factor 1, I, V, VII, X, D, Ⅺ, Ⅻ, XIII deficiency, and hereditary hypofibrinogenemia. The diseases that cause water loss include carbamoyl phosphate synthase deficiency (hyperammonemia type I), ornithine carbamoyl phosphate transferase deficiency (hyperammonemia type I), citrullinemia, arginine substituted succinic aciduria, propionic aciduria, congenital adrenocortical 21 hydroxylase deficiency of the salt loss type in hyperplasia, as well as nephrogenic uremia, adrenoleukodystrophy, lipoid adrenal hyperplasia, 3 B-hydroxysteroid dehydrogenase deficiency, and 18 hydroxylase deficiency. Cardiomyopathy or conduction disorders can be seen in glycogen metabolic disease type I, mucopolysaccharide deposition disease, infantile form of laminar deposition disease, familial cerebellar ataxia, and Refsum’s disease. Heart valve disease can be seen in all types of mucopolysaccharidosis. Cardiac coronary artery disease can be seen in Fabry’s disease, Cockayne’s disease, and homocystinuria. Cerebrovascular symptoms can be seen in Gaucher’s disease infantile form, coarctation, sudophilic cerebral leukodystrophy, Cockayne’s disease and Fabry’s disease. Hypertension can be seen in congenital adrenocortical hyperplasia with 11B hydroxylase deficiency, 17a hydroxylase deficiency, Fabry’s disease, etc. Respiratory symptoms Respiratory distress can be seen in gluconeogenic metabolic disease type II, certain urea cycle deficiencies such as hyperammonemia type II, arginine substituted succinic aciduria, fructose 1.6 diphosphatase deficiency, organic acidemia and congenital lactic acidemia, as well as in Farber’s disease and GM3 ganglioside deposition disease. Recurrent respiratory tract infections are seen in various hereditary immunoglobulin deficiencies, various hereditary complement deficiencies, chronic sarcoidosis, fucoidosis, mannose deposition disease, and lipoid adrenal hyperplasia. These diseases cause not only recurrent respiratory infections, but also recurrent purulent bacterial infections in other systemic parts of the organism. As far as pathogens are concerned, low pathogenic microorganisms often cause diseases, they include Staphylococcus albicans, Streptococcus greene, Escherichia coli and P. coli, Klebsiella pneumoniae, Aspergillus, Salmonella spp, Pseudomonas aeruginosa, Pneumocystis carinii, etc. The common feature of such bacterial infections is that they are highly resistant to drugs, persistent and often difficult to control and eradicate. In addition, certain low pathogenicity mycobacteria and viruses, such as Candida albicans, Cryptococcus, herpes simplex virus, herpes zoster virus can also cause infection. The kidneys are the main excretory organ of the human body and the place where the intermediate metabolites of hereditary metabolic diseases must be excreted. In addition to affecting changes in the biochemical composition of urine, hereditary metabolic diseases can also cause abnormal urine color, renal stone colic and abnormal urine volume. 1, abnormal urine color: normal urine is light yellow. If bright red urine suddenly appears, we should think about whether it is hemoglobinuria due to G a 6-PD deficiency, and patients with hereditary porphyria, due to the large amount of bilirubinogen excreted in the urine. In patients with hereditary porphyria, the urine can turn dark brown in sunlight, and in patients with urinic acidosis, the urine can appear brown or brown-black to varying degrees due to the excretion of black uric acid in the urine, etc. This color is often left on the diapers of small infants, and becomes the main basis for consultation and diagnosis of the disease. Patients with gluconeogenic metabolic disease type V and progressive myotonic dystrophy often excrete myoglobin in the urine, resulting in red or brown-black urine. 2, renal stone colic: cystinuria patients, due to the urinary discharge of large amounts of cystine, more than the urinary dissolution limit, they formed sand-like cystine stones; xanthinuria patients, due to xanthine oxidase deficiency, resulting in increased concentrations of hypoxanthine and xanthine in the blood and urine, so the urinary tract will form a translucent, smooth, purple-yellow, soft xanthine stones; dihydroxyadeninuria patients in the urine In patients with dihydroxyadenineuria, adenine and 8 a hydroxyadenine are increased, and crystals and stones are formed; in patients with idiopathic hypercalciuria, there are often recurrent kidney stones due to increased urinary calcium excretion; about 10-20% of patients with primary gout are combined with kidney stones, resulting in renal colic and hematuria, and sometimes kidney stone symptoms are the earliest manifestation. Polyuria: There are many causes of polyuria, caused by hereditary metabolic diseases such as Lower’s syndrome, primary hyperoxaluria, idiopathic hypercalcemia, cystinemia, galactosemia, hepatomegaly and congenital adrenal cortical hyperplasia with salt loss. Skin and hair abnormalities 1. Skin thickening: Refsum’s disease (palm), mucopolysaccharide deposition disease of various types, especially IH, IS, GM1 ganglioside deposition disease. 2, skin laxity: seen in various hereditary metabolic diseases causing water loss, lipodystrophy (upper body or a certain part). 3, skin pigmentation: seen in adrenal cerebral leukodystrophy, Niemann’s disease infantile type (brown), Farber’s Bing (brown), congenital adrenocortical hyperplasia (black), Gau’s disease (light brown), urinary black aciduria (yellow-black). 4, hypochromic skin: seen in albinism (white), phenylketonuria (white with warm rash and erythema), Cockaync’s disease (premature gray), roll onset, histidinemia (50% have white). 5, rash: photoallergic rash, seen in Hartnup’s disease, tryptophanuria, porphyria, Cockayne’s disease, arginine substituted succinic aciduria, staining dry skin disease. Angiokeratosis-like rash is seen in Niemann’s disease infantile type, laminaria deposition disease, Fabry’s disease. Lupus erythematosus-like rash is seen in familial complement (C2) deficiency. 6, skin yellow tumor: seen in hyperlipoproteinemia I, I, IV, V, glycogen metabolic disease type I, Niemann’s disease infantile type, cerebral tendon yellow crippling disease, Farber’s disease, etc. 7, skin capillary dilation: seen in ataxia capillary dilation syndrome, glycogen metabolic disease, homocystinuria (cheek redness, reticulocytosis). 8, the number of abnormal hair: hairy is seen in congenital adrenocortical hyperplasia, ovarian steroid biosynthesis deficiency, mucopolysaccharide deposition disease type I, I, IV, GM1 ganglioside deposition disease type I. Oligohair is seen in arginine substituted succinic aciduria, homocystinuria. 9, hair color abnormalities: white hair is seen in albinism, homocystinuria, histidinemia, heterosuccinic acidemia, cystine deposition disease, Menke’s disease. Yellow hair is seen in phenylketonuria. Red hair is seen in Kwashiokor’s syndrome. 10, hair quality abnormalities: hair breakage is seen in curly hair, arginine substitution succinic aciduria. Curly hair is seen in Menke’s disease. Eight, five sensory abnormalities (a) eye abnormalities 1, ocular conjunctival capillary dilation: seen in hereditary ataxia capillaris, Fabry’s disease, Menke’s disease. 2, corneal clouding: seen in mucopolysaccharide deposition disease type I, IV, V, VI, VIII, mucolipid deposition disease type I, III, IV, glycogen metabolic disease type I, GM1 ganglioside deposition disease type I, II, Fabry’s disease, Riley-Day syndrome, hepatomegaly, Niemann a Pick’s disease type A. 3, Nystagmus: seen in cerebral tendon yellow crippling disease, GM1 ganglioside deposition disease, Tay-Sachs’ disease, maple glycosuria, ataxia capillaris, heterochromatic cerebral leukodystrophy, spherocytic cerebral leukodystrophy, Niemann a piker’s disease type A, sudanophilic cerebral leukodystrophy. 4, Carver’s ring and sclerositis: the former is seen in WilSonS’s disease, the latter is seen in gout disease. 5.Cataract: seen in galactosemia, Fabry’s disease, homocystinuria, mucopolysaccharide deposition disease type IV, Lowe’s syndrome (with glaucoma), rock candy deposition disease, Refsum’s disease. 6, Crystal ectasia: seen in homocystinuria, Fabry’s disease, Wilson’s disease. 7.Cherry red spots in macula: GM2 ganglioside deposition disease type I, mucolipid deposition disease, Farber’s disease, Niemann’s disease, Gaucher’s disease, heterozygous cerebral leukodystrophy, GM1 ganglioside deposition disease, mucopolysaccharide deposition disease type I, B-hemilactosidase deficiency, waxy lipofuscinosis (can subside). 8, optic nerve atrophy: see Tay-Sachs’ disease, heterozygous cerebral leukodystrophy, GM2 ganglioside deposition disease, mucopolysaccharide deposition disease type I, l, I, IV.V, VI, Krabbe’s disease, Refsum’s disease, Sudanophilic cerebral leukodystrophy, spherocytic cerebral leukodystrophy, Hallervorden -Spats disease, adrenoleukodystrophy, CNS spongiform degeneration, waxy lipofuscinosis, Cockayne’s disease. 9, cortical blindness: seen in galactosemia, phenylketonuria, Tay-Sachs’ disease, Niemann’s disease type A, Sudanophilic cerebral leukodystrophy. 10, retinitis pigmentosa: seen in cerebral hepatorenal syndrome, waxy lipofuscinosis, hyperlipoproteinemia types, Refsum’s disease. (B) Ear abnormalities Deafness is seen in mucopolysaccharide deposition disease type I, I, I, IV, heterozygous cerebral leukodystrophy, sudanophilic cerebral leukodystrophy, mannose deposition disease, adrenal cerebral leukodystrophy, coils disease, Niemann a Pick’s disease type A, Coekayne’s disease. Hearing hypersensitivity is seen in Tay-Sachs’ disease. 9, head and facial abnormalities 1, large head: seen in GM2 ganglioside deposition disease type I, GM1 ganglioside deposition disease, CNS spongiform degeneration, AIexander’s disease, mucopolysaccharide deposition disease type I, II, VI, VII. 2, small head: seen in spherocytic cerebral leukodystrophy, waxy lipofuscinosis infantile type, Cockayne’s disease. 3.Cranial thickening: seen in mucopolysaccharide deposition disease type I, aspartyl glucosaminuria. 4, increased cranial pressure: seen in mucopolysaccharide deposition disease type I, II, I, AIexallder’s disease, mannose deposition disease, adrenal cerebral leukodystrophy, etc. 5, increased cerebrospinal fluid protein: seen in heterozygous cerebral leukodystrophy, adrenal cerebral leukodystrophy, acute intermittent porphyria, spherocytic cerebral leukodystrophy, Farber’s disease. Hereditary spinal cerebellar ataxia, etc. 6. Abnormalities in appearance: seen in all types of mucopolysaccharide deposition disease (except type 2). Mucopolysaccharidosis type II, aspartic amyloglucosaminuria, mannose-deposit disease, infantile form of rockulose deposition disease, GM1 ganglioside deposition disease, GM2 ganglioside deposition disease, cerebrohepatorenal syndrome, coiled disease, Cockayne’s disease, Fabry’s disease, lipoprotein accumulation disorder. Skeletal development disorders 1, height acceleration: seen in congenital adrenocortical hyperplasia (final length is not high), homocystinuria (overstatement), Marfan’s syndrome. Dwarfism: hereditary pituitary dwarfism, thyroxine synthase deficiency, gluconeogenic metabolic disease types, mucopolysaccharide deposition disease types, mucolipid deposition disease types, Cackayne’s disease. 3, abnormal bone cheese development: seen in mucopolysaccharide deposition disease each plow. 4, hand abnormalities: elongated fingers (toes) are seen in homocystinuria, Marfan’s syndrome, cystathionuria. Wide and thick hands are seen in all types of mucopolysaccharide deposition disease, especially type L and 2. Disfigurement of the fingers is seen in self-destructive syndrome.