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


CONCLUSIONS
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.
Doi
T
T
Department of Paediatrics, Aomori Central Hospital, Japan.
Abo
W
W
Tateno
M
M
Hayashi
K
K
Hori
T
T
Nakada
T
T
Fukao
T
T
Takahashi
Y
Y
Terada
N
N
D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D006332:Cardiomegaly / Q000150:complications; D002331:Carnitine / Q000627:therapeutic use; D002648:Child; D005234:Fatty Liver / Q000150:complications / Q000175:diagnosis; D006333:Heart Failure / Q000150:complications / Q000175:diagnosis; D006529:Hepatomegaly / Q000150:complications; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology / Q000628:therapy
D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002331:Carnitine