OVERVIEW
Aminoglycinuria (aminoglycinuria) is an autosomal recessive disorder characterized by increased urinary excretion of proline, hydroxyproline, and glycine. It is a hereditary disease for which there is no cure. As the disease is discovered incidentally, it generally does not affect health and does not require treatment.
Causes of the disease
The disease is often autosomal recessive. The pathogenesis of the disease is due to a disorder in the renal tubular epithelial cells of the common transport system of proline, hydroxyproline and glycine, or the selective transport system of glycine or subamino acids.
The disease can be divided into 4 types: type I with jejunal transit disorder, and types II, III, and IV without jejunal transit disorder.
Symptoms
Simple glycosuria is mostly benign and usually asymptomatic. Occasionally, there are mental retardation, convulsions and increased protein in the cerebrospinal fluid. Neonatal glycosuria, often reflecting the total amino acid urine in the first 6 months of life during the period of normal development, persistent glycosuria appeared in the early childhood Fanconi syndrome, mostly onset in 6 to 12 months, can be seen in polyuria, thirst, dehydration, constipation, weakness, refusal to eat, fever, growth and developmental delays, may be anti-vitamin D rickets and severe malnutrition and other phenomena.
Examination
Urine amino acid screening and quantitative urine analysis by chromatography. X-ray abdominal plain films, imaging, and ultrasound are routinely performed.
Diagnosis
A preliminary diagnosis of aminoglycosuria can be made on the basis of clinical presentation, family history, and urine amino acid screening, i.e., qualitative tests. Quantitative analysis by urine chromatography is helpful in confirming the diagnosis and typing.
Treatment
Because aminoacylglycineuria is a hereditary disease, there is no cure, but the disease generally does not affect health and does not require treatment.
In addition to treatment of the cause of Fanconi syndrome in young children, symptomatic treatment should be given to correct acidosis, hypovolemia and hypophosphatemia, and dialysis or kidney transplantation is appropriate for renal failure. Hypouricemia, aminoaciduria and proteinuria generally do not require treatment.
Prognosis
The prognosis of this disease is good.