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AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.

Abstract：

:In a female infant with dysmorphic features, severe neurological defects, and congenital blindness, a positive urinary Bratton-Marshall test led to identification of a massive excretion of 5-amino-4-imidazolecarboxamide (AICA)-riboside, the dephosphorylated counterpart of AICAR (also termed "ZMP"), an intermediate of de novo purine biosynthesis. ZMP and its di- and triphosphate accumulated in the patient's erythrocytes. Incubation of her fibroblasts with AICA-riboside led to accumulation of AICAR, not observed in control cells, suggesting impairment of the final steps of purine biosynthesis, catalyzed by the bifunctional enzyme AICAR transformylase/IMP cyclohydrolase (ATIC). AICAR transformylase was profoundly deficient, whereas the IMP cyclohydrolase level was 40% of normal. Sequencing of ATIC showed a K426R change in the transformylase region in one allele and a frameshift in the other. Recombinant protein carrying mutation K426R completely lacks AICAR transformylase activity.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Marie S,Heron B,Bitoun P,Timmerman T,Van Den Berghe G,Vincent MF

doi

10.1086/421475

subject

Has Abstract

pub_date

2004-06-01 00:00:00

pages

1276-81

issue

6

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)62854-7

journal_volume

74

pub_type

杂志文章

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