Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy. Disease data Classification Disease Synonyms 5-amino-4-imidazole carboxamide ribosiduria 5-amino-4-imidazole carboxamide ribosiduria Niedobór ATIC AICA-ribosiduria due to ATIC deficiency AICAR transformylase/IMP cyclohydrolase deficiency ATIC deficiency ORPHA code 250977 OMIM code 608688 ICD10 code E79.8 ICD11 code 5C55.0Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl