BCS1L gene mutation causing GRACILE syndrome: case report.
Ren Fail
; 36(6): 953-4, 2014 Jul.
Article
em En
| MEDLINE
| ID: mdl-24655110
ABSTRACT
GRACILE syndrome is a rare autosomal recessive disease characterized by fetal growth retardation, Fanconi type aminoaciduria, cholestasis, iron overload, profound lactic acidosis, and early death. It is caused by homozygosity for a missense mutation in the BCS1L gene. The BCS1L gene encodes a chaperone responsible for assembly of respiratory chain complex III. Here we report that a homozygous mutation c.296C > T (p.P99L), in the first exon of BCS1L gene found in an affected 2-month-old boy of asymptomatic consanguineous parents results in GRACILE syndrome. This genotype is associated with a severe clinical presentation. So far no available treatments have changed the fatal course of the disease, and the metabolic disturbance responsible is still not clearly identified. Therefore, providing prenatal diagnosis in families with previous affected infants is of major importance. Mitochondrial disorders are an extremely heterogeneous group of diseases sharing, in common, the fact that they all ultimately impair the function of the mitochondrial respiratory chain. A clinical picture with fetal growth restriction, postnatal lactacidosis, aminoaciduria, hypoglycemia, coagulopathy, elevated liver enzymes, and cholestasis should direct investigations on mitochondrial disorder.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Acidose Láctica
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Colestase
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Complexo III da Cadeia de Transporte de Elétrons
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Doenças Mitocondriais
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Retardo do Crescimento Fetal
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Aminoacidúrias Renais
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Hemossiderose
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Erros Inatos do Metabolismo
Tipo de estudo:
Prognostic_studies
Limite:
Humans
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Infant
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Male
Idioma:
En
Revista:
Ren Fail
Assunto da revista:
NEFROLOGIA
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Turquia