Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year-old Japanese boy.

Abstract:

UNLABELLED:We investigated the clinical and biochemical characteristics of a 6-year-old Japanese boy with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. He had hypoketotic hypoglycaemia, exercise- and fasting-induced lethargy, hepatomegaly and cardiomegaly. Significant laboratory findings included elevated plasma levels of creatine phosphokinase and acyl-carnitine and a fatty liver at biopsy suggesting a diagnosis of VLCAD deficiency. CONCLUSION:The diagnosis of very long-chain acyl-CoA dehydrogenase deficiency was supported by the results of acyl-CoA dehydrogenase activity for C8 and C16 fatty acids in skin fibroblasts from the patient. Treatment with medium chain triglycerides and L-carnitine in the diet improved his hepatomegaly and cardiomegaly.

journal_name

Eur J Pediatr

authors

Doi T,Abo W,Tateno M,Hayashi K,Hori T,Nakada T,Fukao T,Takahashi Y,Terada N

doi

10.1007/pl00008368

keywords:

subject

Has Abstract

pub_date

2000-12-01 00:00:00

pages

908-11

issue

12

eissn

0340-6199

issn

1432-1076

journal_volume

159

pub_type

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