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AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (ATIC)

AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (ATIC)
ATIC DEFICIENCY; AICA-RIBOSURIA DUE TO ATIC DEFICIENCY
608688
OMIM = Online Mendelian Inheritance of Men
250977
Bifunctional purine biosynthesis protein PURH
2.1.2.3
2q35
E79.8
very rare
autosomal recessive
mutation in the ATIC gene
Laboratory findings    Bratton-Marshall test (urine) inc (urine)
    Succinylamino-imidazole carboxamide riboside inc (cerebrospinal fluid)
    Succinylamino-imidazole carboxamide riboside inc (urine)
Symptoms    blindness, visual loss, visual impairment
    brachycephaly
    congenital heart defect
    epilepsy
    hypotonia
    intellectual disability/intellectual developmental disorder
    mental retardation
    onset, childhood
    onset, infancy
    onset, neonatal
    optic atrophy
    psychomotor retardation
    seizures