AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.
Aminoimidazole Carboxamide
/ metabolism
Child
Child, Preschool
Congenital Abnormalities
/ genetics
Epilepsy
/ genetics
Female
Humans
Hydroxymethyl and Formyl Transferases
/ deficiency
Infant
Infant, Newborn
Intellectual Disability
/ genetics
Male
Multienzyme Complexes
/ genetics
Mutation
Nucleotide Deaminases
/ deficiency
Phenotype
Ribonucleosides
/ metabolism
AICA-riboside
AICA-ribosiduria
AICAR
ATIC
clinical genetics
de novo purine biosynthesis
metabolic disease
rare disease
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
11 2020
11 2020
Historique:
received:
20
03
2020
revised:
15
06
2020
accepted:
16
06
2020
pubmed:
20
6
2020
medline:
8
10
2021
entrez:
20
6
2020
Statut:
ppublish
Résumé
5-Amino-4-imidazolecarboxamide-ribosiduria (AICA)-ribosiduria is an exceedingly rare autosomal recessive condition resulting from the disruption of the bifunctional purine biosynthesis protein PURH (ATIC), which catalyzes the last two steps of de novo purine synthesis. It is characterized biochemically by the accumulation of AICA-riboside in urine. AICA-ribosiduria had been reported in only one individual, 15 years ago. In this article, we report three novel cases of AICA-ribosiduria from two independent families, with two novel pathogenic variants in ATIC. We also provide a clinical update on the first patient. Based on the phenotypic features shared by these four patients, we define AICA-ribosiduria as the syndromic association of severe-to-profound global neurodevelopmental impairment, severe visual impairment due to chorioretinal atrophy, ante-postnatal growth impairment, and severe scoliosis. Dysmorphic features were observed in all four cases, especially neonatal/infancy coarse facies with upturned nose. Early-onset epilepsy is frequent and can be pharmacoresistant. Less frequently observed features are aortic coarctation, chronic hepatic cytolysis, minor genital malformations, and nephrocalcinosis. Alteration of the transformylase activity of ATIC might result in a more severe impairment than the alteration of the cyclohydrolase activity. Data from literature points toward a cytotoxic mechanism of the accumulated AICA-riboside.
Substances chimiques
Multienzyme Complexes
0
Ribonucleosides
0
inosine monophosphate synthase
0
Aminoimidazole Carboxamide
360-97-4
Hydroxymethyl and Formyl Transferases
EC 2.1.2.-
Nucleotide Deaminases
EC 3.5.4.-
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1254-1264Informations de copyright
© 2020 SSIEM.
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