Novel heterozygous MCCC1 mutations identified in a patient with 3-methylcrotonyl-coenzyme A carboxylase deficiency
Journal of Genetic Medicine
;
: 23-26, 2017.
Artigo
em Inglês
| WPRIM
| ID: wpr-114918
ABSTRACT
Isolated 3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder affecting leucine metabolism; it is one of the most common inborn metabolic diseases detected in newborn screening. Mutations in the genes MCCC1 or MCCC2 cause a defect in the enzyme 3-methylcrotonyl-CoA carboxylase, with MCCC2 mutations being the form predominantly reported in Korea. The majority of infants identified by neonatal screening usually appear to be asymptomatic and remain healthy; however, some patients have been reported to exhibit mild to severe metabolic decompensation and neurologic manifestations. Here we report the clinical features of a patient with asymptomatic 3-methylcrotonyl-CoA carboxylase deficiency and novel heterozygous MCCC1 mutations.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Programas de Rastreamento
/
Triagem Neonatal
/
Coreia (Geográfico)
/
Leucina
/
Doenças Metabólicas
/
Metabolismo
/
Manifestações Neurológicas
Tipo de estudo:
Estudo de rastreamento
Limite:
Humanos
/
Lactente
/
Recém-Nascido
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2017
Tipo de documento:
Artigo
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