Aspartyl glucosamineuria

Introduction to aspartyl glucosamineuria Aspartyl glucosamineuria is an autosomal recessive disorder caused by the lack of aspartyl glucosaminidase in the body. It is characterized by mental retardation, rough face, multiple bone dysplasia, and peripheral blood. There are vacuoles in the lymphocytes and no mucopolysaccharide urine. basic knowledge The proportion of illness: 0.005% Susceptible people: no specific population Mode of infection: non-infectious complication:

The cause of aspartyl glucosamine

(1) Causes of the disease

The disease is an autosomal recessive disorder caused by the systemic hereditary deficiency of aspartyl aminoglucosidase.

(two) pathogenesis

Normally, this lysosomal enzyme cleaves the aspartyl glycosaminoglycan bond, which is located between the carbohydrates and proteins of several glycoproteins. The first step of glycoprotein degradation is by lysosomal proteases. The chemical bond between the carbohydrate and the amino acid is cleaved to produce a glycopeptide. Aspartame can release aspartic acid by deamination to produce free ammonia and N-acetylglucosamine. It will cause too much glycoprotein to deposit in the lysosome and cause disease.

The histological changes of this disease are inclusion bodies and vacuoles in visceral tissue cells.

Aspartyl glucosamine prevention

1. Carry out marriage and birth guidance, improve the quality of the population, and strive to reduce the incidence of genetic diseases in the population.

2. Avoid the birth of genetically ill offspring (ie eugenics) and genetic variation, taking common measures including: premarital examination, genetic counseling, prenatal care and early treatment of genetic diseases.

Aspartyl glucosamine urinary complications Complication

The disease can be complicated by psychotic symptoms, manifested as aggressive and abnormal behavior or arrogance, depressive psychosis, etc. Others may also have mild hepatic enlargement, aortic valve hypertrophy and other cardiac abnormalities.

Aspartyl glucosamine urinary symptoms Common symptoms Cheeks are obviously invaginated Short-neck skin Language development retardation Intelligence reduction diarrhea Repeated upper respiratory tract infection abnormally small

Most patients develop upper respiratory tract infections, skin infections and intestinal infections in early childhood, and cause diarrhea, mental and motor developmental disorders, which can lead to short stature, awkward movements, language barriers, mental retardation, rough face, and mucopolysaccharide storage. Symptoms of type I, manifested as obvious cheeks in the cheeks, collapse of the nasal bridge and short neck, about half of the cases have large skin blemishes, photoreceptive pigmentation and rosacea and other skin lesions, most cases may have psychiatric symptoms, manifested as attacks Sexual and abnormal behavior or manic, depressive psychosis, etc., other manifestations may have mild swelling of the liver, aortic valve hypertrophy and other cardiac abnormalities.

Examination of aspartyl glucosamine

There are vacuoles in the lymphocytes in the surrounding blood. Electron microscopic examination reveals large inclusion bodies in white blood cells, liver cells, neuronal cells, glial cells and vascular endothelial cells, which contain dense structures and electronically transparent fat droplets. In addition, intracellular Golgi apparatus changes, endoplasmic reticulum enlargement, and a large amount of aspartyl glucosamine can be excreted in the urine. The biochemical analysis of fibroblasts in the skin shows the lack of aspartyl aminoglucosaminase.

X-ray examination: X-ray showed skull, spine and rib deformity, and scoliosis occurred.

Diagnosis and identification of aspartyl glucosamine

The disease is diagnosed based on clinical symptoms and laboratory tests.

In the differential diagnosis, it should be noted that it is different from other types of lysosomal abnormal diseases, and the latter has no aspartyl glucosamine.

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