How to check for decreased absorbance of serum copper oxidase

Reduced serum copper oxidase absorbance is an important manifestation of mental disorders associated with hepatomegaly. Autosomal recessive monogenic disorders have a positive family history in about 20% to 30% of cases most of which develop in the sibling generation. The presence of at least 25 mutations in the gene, located on chromosome 13, has not been determined as to whether the defect is a structural or control gene. The pathological changes are mainly in the nucleus accumbens, but the cerebral cortex can also be damaged and pathological sections show degeneration or loss of neuronal cells in the nucleus accumbens and caudate nucleus, which are replaced by astrocytes. If copper is deposited in large amounts in the liver, hepatomegaly, acute or chronic hepatitis and cirrhosis, liver atrophy may occur. How to check for decreased absorbance of serum copper oxidase? The three main signs of the disease are extrapyramidal symptoms, cirrhosis and corneal pigment rings (Kayser-Fleischer rings). Among the first symptoms, extrapyramidal movement disorders are extremely obvious, such as limb tremors, large arm swings, increased or tonic muscle tone, involuntary movements, and ataxia are most common. Other conditions such as slurred speech, salivation and dysphagia are not uncommon. In most cases, there is a brown-green pigment ring (Kayser-Fleischer ring) on the outer edge of the cornea, and laboratory tests include reduced serum copper oxidase activity. The detection rate of the corneal pigment ring is over 90%, which is of significant diagnostic value. This ring is brown or gray-green in color, located at the edge of the cornea, and is more easily seen under slit lamp. Liver damage is most commonly seen with hepatomegaly, splenomegaly, and in advanced stages ascites and cirrhosis. The disease is a continuously progressive disease with mostly poor prognosis. It takes about 7 to 15 years from the onset of symptoms to death, mostly due to liver failure or co-infection. Extrapyramidal symptoms, corneal pigment rings and decreased serum copper oxidase absorbance are three important bases for the diagnosis of this disease. In addition, a history of liver disease or liver signs, and increased urinary copper (>50 μg) are also diagnostic; while brain CT and MRI examinations are available for auxiliary diagnostic reference. 1, evidence of organic damage (1) brain lesions, liver lesions. (2) Age of onset and clear genetic history. (3) Increased muscle tone, tremor, corneal K-F ring, etc. (2) Mental symptoms (1) Progressive increase in intellectual impairment. (2) Mood disorders and personality changes. 3, laboratory tests (1) Serum copper blue protein and blood copper are decreased, urine copper and liver copper are increased, and serum copper hydrogenase is decreased. (2) Elevated liver function damage SGPT, ZnTTT, etc. (3) Brain CT and MRI examination, hypointense changes in the basal ganglia area are seen. The three items of extra-pyramidal symptoms, corneal pigment ring and decreased absorbance of serum copper oxidase are the key basis for the diagnosis of this disease.