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 Pediatrjournal_title
European journal of pediatricsauthors
Doi T,Abo W,Tateno M,Hayashi K,Hori T,Nakada T,Fukao T,Takahashi Y,Terada Ndoi
10.1007/pl00008368keywords:
subject
Has Abstractpub_date
2000-12-01 00:00:00pages
908-11issue
12eissn
0340-6199issn
1432-1076journal_volume
159pub_type
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