Complex glycerol kinase deficiency in three children / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 441-444, 2007.
Artigo
em Chinês
| WPRIM
| ID: wpr-312673
ABSTRACT
Glycerol kinase deficiency (GKD), a rare X-linked recessive disorder, is classified into two types isolated and complex. Complex GKD is an Xp21 contiguous gene deletion involving the glycerol kinase locus together with the adrenal hypoplasia congenita (AHC) or Duchenne muscular dystrophy (DMD) loci or both. Its clinical features depend on the involved loci. GKD can be confirmed by an elevated urinary glycerol concentration tested by gas chromatography mass spectrometry (GC/MS). The three cases reported here were all male, presenting symptoms from neonatal period. The predominant clinical profile was characterized by hypoadrenocorticism, glyceroluria and Duchenne muscular dystrophy. After receiving a low fat diet and glucocorticoid replacement, they improved with relieved symptoms of hypoadrenocorticism. But they had significant developmental delays and myasthenia. In the follow-up two of them died of adrenal crisis.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Terapêutica
/
Urina
/
Insuficiência Adrenal
/
Doenças Genéticas Ligadas ao Cromossomo X
/
Diagnóstico
/
Diagnóstico Diferencial
/
Glicerol
/
Glicerol Quinase
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2007
Tipo de documento:
Artigo
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