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Summary
L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY
AGAT DEFICIENCY CREATINE-DEFICIENCY-SYNDROME
612718
OMIM = Online Medalian Inheritance of Men
35704
15q15.3
  • creatine monohydrate
rare
autosomal recessive
symptoms
behavior, autism or autistic-like
epilepsy
mental retardation
motor retardation
seizures
speech development, delayed, abnormal
laboratory finding
EEG abnormalities -
Guanidinoacetate decreasedplasma
Guanidinoacetate0.000.00 decreasedurineno data
Creatine0.000.00 normal/decreasedurineno data
Creatine normal/decreasedplasma
Literature
Chen YWu L, Xiong QThe ocular abnormalities of blue diaper syndromeMPS14073-751991
Bonnefont JPet al.Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosisJ Pediatr1212255-2581992
Trapnell BCWhitsett JA, Nakata KPulmonary alveolar proteinosisN Engl J Med349262527-25392003
Guffon Net al.2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new caseJ Inherit Metab Dis160821-8301993
Chalmers RAet al.D-2-hydroxyglutaric aciduria: case report and biochemical studies J Inherit Metab Dis3011-151980