A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report.
BMC Gastroenterol
; 18(1): 96, 2018 Jun 25.
Article
en En
| MEDLINE
| ID: mdl-29940878
ABSTRACT
BACKGROUND:
Transient infantile hypertriglyceridemia (HTGTI) is an autosomal recessive disorder caused by mutations in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene. CASE PRESENTATION We report a case of HTGTI in a Chinese female infant. She presented with hepatomegaly, hypertriglyceridemia, moderately elevated transaminases, and hepatic steatosis at 3.5 months of age. A novel mutation c.523C>T, p. (Q175*) was identified in GPD1. The patient was a homozygote and her parents were heterozygous for the mutation. Ultrastructural study showed intrahepatocytic lipid droplets.CONCLUSIONS:
This is the first reported case of HTGTI in Chinese, expanding the worldwide distribution of HTGTI and the mutation spectrum of GPD1.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Hipertrigliceridemia
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Codón sin Sentido
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Pueblo Asiatico
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Glicerolfosfato Deshidrogenasa
Tipo de estudio:
Prognostic_studies
Límite:
Female
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Humans
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Infant
Idioma:
En
Revista:
BMC Gastroenterol
Asunto de la revista:
GASTROENTEROLOGIA
Año:
2018
Tipo del documento:
Article
País de afiliación:
China