Aspartylglucosaminuria

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Aspartylglucosaminuria (pronunciation: as-par-tyl-gloo-ko-sa-min-u-ri-a) is a rare inherited metabolic disorder.

Etymology

The term "Aspartylglucosaminuria" is derived from the name of the enzyme, aspartylglucosaminidase, which is deficient in individuals with this disorder. The suffix "-uria" is derived from the Greek "ouron" meaning urine, indicating the presence of a substance in urine.

Definition

Aspartylglucosaminuria is a disorder that affects the body's ability to break down certain sugars and proteins. It is characterized by a deficiency of the enzyme aspartylglucosaminidase, which is involved in the breakdown of a group of sugars called glycoproteins. This deficiency leads to an accumulation of a specific glycoprotein, called aspartylglucosamine, in body tissues and fluids, and its increased excretion in urine.

Symptoms

Symptoms of Aspartylglucosaminuria include intellectual disability, skeletal abnormalities, and developmental delay. The severity and onset of symptoms can vary widely among affected individuals.

Causes

Aspartylglucosaminuria is caused by mutations in the AGA gene, which provides instructions for producing the enzyme aspartylglucosaminidase. This enzyme is involved in the final steps of breaking down glycoproteins. Mutations in the AGA gene reduce or eliminate the activity of this enzyme, preventing the normal breakdown of glycoproteins.

Diagnosis

Diagnosis of Aspartylglucosaminuria is based on the presence of characteristic clinical features, specialized laboratory tests that can detect high levels of aspartylglucosamine in the urine, and genetic testing confirming a mutation in the AGA gene.

Treatment

There is currently no cure for Aspartylglucosaminuria. Treatment is supportive and aims to manage symptoms and improve quality of life. This may include physical therapy, special education, and other supportive treatments.

See also

External links

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