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J Inherit Metab Dis. 1997 Nov;20(6):799-802.

Aspartylglucosaminuria among Palestinian Arabs.

Author information

1
Rosa and David Orzen Human Genetic Clinic, Department of Human Genetics, Hadassah Medical Center, Hebrew University, Jerusalem, Israel.

Abstract

Aspartylglucosaminuria (AGU) is a rare disorder of glycoprotein metabolism caused by the deficiency of the lysosomal enzyme aspartylglucosaminidase (AGA). AGU is inherited as an autosomal recessive trait and occurs with a high frequency in Finland because of a founder effect. While very few patients with AGU have been reported from non-Finnish origin, we diagnosed the disorder in 8 patients originating from 3 unrelated families, all Palestinian Arabs from the region of Jerusalem. The clinical diagnosis of AGU is often difficult, in particular early in the course of the disease, and most of the patients are diagnosed after the age of 5 years. However, since these patients excrete early large amounts of aspartylglucosamine in urine, biochemical screening is easy by urine chromatography.

PMID:
9427148
[Indexed for MEDLINE]
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