| ASPARTYLGLUCOSAMINURIA (AGU) | |
| ASPARTYLGLUCOSAMINIDASE DEFICIENCY; AGA DEFICIENCY | |
|
208400
OMIM = Online Mendelian Inheritance of Men | |
|
93 | |
| N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase | |
| 3.5.1.26 | |
| rare (~100 cases) autosomal recessive mutation in the AGA gene most of patients were found in Finland | |
| Laboratory findings | 4-N-2-acetamido-2-deoxy-beta-D-glucopyrasonyl-L-asparagine inc (urine) Aspartylglucosamine inc (urine) Lymphocytes, vacuoles (blood) N-Aspartylglucosamine inc (urine) Oligosaccharides abn (urine) |
| Symptoms | acne angiokeratoma anteverted nostril brachycephaly cardiomyopathy cardiomyopathy, hypertrophic cerebral atrophy clubfoot clumsiness, coordination defect or unsteadiness coarse facial features diarrhea dysostosis multiplex heart involvement hepatomegaly (large liver) hernia hypertonia, spasticity infections (respiratory tract/system) infections (severe or recurrent) intellectual disability/intellectual developmental disorder large or wide mouth lens opacities macroglossia, large/protuding tongue mental retardation microcephaly (<2 SD for age) neutropenia (decreased neutrophils) normal at birth onset, childhood onset, infancy onset, neonatal photophobia or photosensitive defect in light-exposed area seizures short stature skeletal changes, skeletal abnormalities skoliosis, kyphoskoliosis speech development, delayed, abnormal splenomegaly (large spleen) |