title: Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year-old Japanese boy.
abstract: 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.
authors.affiliation: Department of Paediatrics, Aomori Central Hospital, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Doi
authors.forename: W
authors.initials: W
authors.lastname: Abo
authors.forename: M
authors.initials: M
authors.lastname: Tateno
authors.forename: K
authors.initials: K
authors.lastname: Hayashi
authors.forename: T
authors.initials: T
authors.lastname: Hori
authors.forename: T
authors.initials: T
authors.lastname: Nakada
authors.forename: T
authors.initials: T
authors.lastname: Fukao
authors.forename: Y
authors.initials: Y
authors.lastname: Takahashi
authors.forename: N
authors.initials: N
authors.lastname: Terada
mesh_terms: 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
chemical_list: D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002331:Carnitine