Neurological Involvement in Glycogen Storage Disease Type IXa due to PHKA2 Mutation.
Can J Neurol Sci
; 47(3): 400-403, 2020 05.
Article
em En
| MEDLINE
| ID: mdl-31987065
ABSTRACT
Glycogen storage diseases (GSDs) result from the deficiency of enzymes involved in glycogen synthesis and breakdown into glucose. Mutations in the gene PHKA2 encoding phosphorylase kinase regulatory subunit alpha 2 have been linked to GSD type IXa. We describe a family with two adult brothers with neonatal hepatosplenomegaly and later onset of hearing loss, cognitive impairment, and cerebellar involvement. Whole-exome sequencing was performed on both subjects and revealed a shared hemizygous missense variant (c.A1561G; p.T521A) in exon 15 of PHKA2. The phenotype broadens the clinical and magnetic resonance imaging spectrum of GSD type IXa to include later onset neurological manifestations.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fosforilase Quinase
/
Doença de Depósito de Glicogênio
/
Ataxia Cerebelar
/
Doenças do Sistema Nervoso Periférico
/
Doenças Genéticas Ligadas ao Cromossomo X
/
Epilepsia
/
Disfunção Cognitiva
/
Perda Auditiva Neurossensorial
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article