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Summary
CEREBRAL CREATINE DEFICIENCY SYNDROME 3 CCDS3 AGAT DEFICIENCY
CREATINE-DEFICIENCY-SYNDROME
612718
OMIM = Online Medalian Inheritance of Men
35704
15q15.3
  • creatine monohydrate
very rare
autosomal recessive
mutation in the GATM gene
symptoms
behavior, autism or autistic-like
developmental delay
epilepsy
failure to thrive
intellectual disability/intellectual developmental disorder (ID/ IDD)
mental retardation
motor retardation
muscle weakness
onset, infancy
seizures
speech development, delayed, abnormal
laboratory finding
EEG abnormalities -
Guanidinoacetic acid / Guanidinoacetate decreasedplasma
Guanidinoacetic acid / Guanidinoacetate1.0092.00 mmol/mol creatinineurine
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
Alabdullatif MA,et al.Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutationsClin Genet914616-6222017
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
Zelinger Let al.A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi JewsAm J Hum Genet882207-2152011
Chalmers RAet al.D-2-hydroxyglutaric aciduria: case report and biochemical studies J Inherit Metab Dis3011-151980