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Summary
AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (ATIC)
ATIC DEFICIENCY AICA-RIBOSURIA DUE TO ATIC DEFICIENCY
606688
OMIM = Online Medalian Inheritance of Men
250977
2q35
very rare
autosomal recessive
mutation in the ATIC gene
symptoms
blindness, visual loss, visual impairment
brachycephaly
congenital heart defect
epilepsy
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
mental retardation
onset, childhood
onset, infancy
onset, neonatal
optic atrophy
psychomotor retardation
seizures
laboratory finding
Succinylamino-imidazole carboxamide riboside mmol/mol creatinineurine
Succinylamino-imidazole carboxamide riboside +€mol/lcerebrospinal fluid
Bratton-Marshall test positiveurine
Literature
Youngblom E,Pariani M, Knowles JWFamilial HypercholesterolemiaGeneReviews-« Internet002016
Diomedi M,et al.A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegiaEur J Med Genet5911564-5682016
Mason PJ,Bautista JM, Gilsanz FG6PD deficiency: the genotype-phenotype associationBlood Rev215267-2832007
Fujii T,et al.Outcome of ketogenic diets in GLUT1 deficiency syndrome in Japan: A nationwide surveyBrain Dev387628-6372016
Nalysnyk L,et al.Gaucher disease epidemiology and natural history: a comprehensive review of the literatureHematology. 2017 Mar22(2):65-73.22265-732017