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Summary
ASPARTYLGLUCOSAMINURIA
ASPARTYLGLYCOSAMINURIA
208400
OMIM = Online Medalian Inheritance of Men
93
4q34.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • bone marrow transplantation
rare (100 cases)
autosomal recessive
mutation in the AGA gene
most of patients were found in Finland
symptoms
acne
angiokeratoma
clumsiness, coordination defect or unsteadiness
coarse facial features
diarrhea
heart involvement
hernia
infections (severe or recurrent)
large or wide mouth
lens opacities
macroglossia, large/protuding tongue
macroorchidism
mental retardation
neutropenia (decreased neutrophils)
normal at birth
onset, childhood
photophobia or photosensitive defect in light-exposed area
skeletal changes, skeletal abnormalities
speech development, delayed, abnormal
laboratory finding
Aspartylglucosamine100.00250.000.201.00mmol/mol creatinineurine
4-N-2-acetamido-2-deoxy-beta-D-glucopyrasonyl-L-asparagine increasedurine
Oligosaccharides0.000.00 abnormalurineno data
Lymphocytes, vacuoles blood
N-Aspartylglucosamine0.000.00 increasedurineno data
Literature
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Zafeiriou DIet al.Serial MRI and neurophysiological studies in late-infantile Krabbe diseasePediatr Neurol150240-2441996
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Hanson Ret al.The metabolism of 2-alpha, 7-alpha, 12-alpha-trihydroxy-five-beta-cholestan-26-oic acid in two siblings with cholestasis due to intrahepatic bile duct anomaliesJ Clin Invest560577-5781975
Uriel G et al.Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophyPediatr Neurol130333-3351995
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Huner Get al.Breastfeeding experience in inborn errors of metabolism other than phenylketonuriaJ Inherit Metab Dis284457-4652005
Huner Get al.Breastfeeding experience in inborn errors of metabolism other than phenylketonuriaJ Inherit Metab Dis284457-4652005
Nagarajan Set al.Management of methylmalonic acidaemia by combined liver-kidney transplantationJ Inherit Metab Dis284517-5242005
Eyssen Het al.Trihydroxycoprostanic acid in the duodenal fluid of two children with intrahepatic bile duct anomaliesBiochim Biophys Acta2730212-2211972
Nevo Yet al.Neuropathy of metachromatic leukodystrophy: improvement with immunomodulationPediatr Neurol150237-2391996
Surendran Set al.Metabolic changes in the knockout mouse for Canavans disease: implications for patients with Canavans diseaseJ Child Neurol189611-6152003
Huner Get al.Breastfeeding experience in inborn errors of metabolism other than phenylketonuriaJ Inherit Metab Dis284457-4652005
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Huner Get al.Breastfeeding experience in inborn errors of metabolism other than phenylketonuriaJ Inherit Metab Dis284457-4652005