AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (ATIC)

Question 1

What is  AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (ATIC)?

Accepted Answer

very rare
autosomal recessive
mutation in the ATIC gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

AICA-Ribosidurie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 608688

Question 4

Which enzymes are involved?

Accepted Answer

Bifunctional purine biosynthesis protein PURH

Disease	AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (ATIC)
Synonym	ATIC DEFICIENCY; AICA-RIBOSURIA DUE TO ATIC DEFICIENCY
OMIM	608688 OMIM = Online Mendelian Inheritance of Men
Orphanet	250977
Protein (UniProt)	Bifunctional purine biosynthesis protein PURH
ExPASy	2.1.2.3
Gene locus	2q35
ICD	E79.8
Summary	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