Adult GAMT deficiency: A literature review and report of two siblings.
Adult cases
GAMT
Guanidinoacetate methyltransferase deficiency
Progressive intellectual and neurological deterioration
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Jun 2021
Jun 2021
Historique:
received:
17
04
2021
accepted:
18
04
2021
entrez:
17
5
2021
pubmed:
18
5
2021
medline:
18
5
2021
Statut:
epublish
Résumé
Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency disorder and an inborn error of metabolism presenting with progressive intellectual and neurological deterioration. As most cases are identified and treated in early childhood, adult phenotypes that can help in understanding the natural history of the disorder are rare. We describe two adult cases of GAMT deficiency from a consanguineous family in Pakistan that presented with a history of global developmental delay, cognitive impairments, excessive drooling, behavioral abnormalities, contractures and apparent bone deformities initially presumed to be the reason for abnormal gait. Exome sequencing identified a homozygous nonsense variant in
Identifiants
pubmed: 33996490
doi: 10.1016/j.ymgmr.2021.100761
pii: S2214-4269(21)00055-0
pmc: PMC8093930
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100761Informations de copyright
© 2021 The Authors.
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