A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia.
Neurosciences (Riyadh)
; 22(2): 131-133, 2017 04.
Article
em En
| MEDLINE
| ID: mdl-28416785
ABSTRACT
Non-ketotic hyperglycinemia (NKH) is a rare inborn error of metabolism and is caused by a glycine cleavage system deficiency. Eighty-five percent of patients present with the neonatal type of NKH, the infants initially develop lethargy, seizures, and episodes of apnea, and most often death. Between 60-90% of cases are caused by mutations in the glycine decarboxylase (GLDC). We believed that more mutation reports especially for rare disease as NKH help to evaluate the genotype-phenotype relationship in patients with GLDC. In this study, we describe a case of a neonate admitted to intensive care unit with hypotonia, respiratory failure, lethargy, poor feeding. Due to the history of 2 non-ketotic hyperglycinemia diagnosed male siblings, molecular prenatal diagnosis in patient was performed and a novel c.2963G>A (Arg998Gln) homozygous mutation within the GLDC gene has been detected. We aimed to contribute to mutation knowledge pool of GLDC gene with a novel mutation.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hiperglicinemia não Cetótica
/
Glicina Desidrogenase (Descarboxilante)
/
Mutação
Limite:
Female
/
Humans
/
Infant
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article