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AICA-ribosiduria

Disease Export to PDF
Name:
AICA-ribosiduria
Description:
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.
ORPHAcode:
250977
Synonyms:
5-amino-4-imidazole carboxamide ribosiduria
AICA-ribosiduria due to ATIC deficiency
AICAR transformylase/IMP cyclohydrolase deficiency
ATIC deficiency
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
ATIC
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14