title: Long-chain 3-hydroxyacylCoA dehydrogenase deficiency: a new case presenting with liver dysfunction, cholestasis and fibrosis.
abstract: A cholestatic 6-mo-old girl was admitted to our department because she recently presented with hypotonia and lethargy, apparently due to moderate and transient hypoglycaemia. Her urine contained 3-hydroxy-dicarboxylic acids of 12 to 14 carbons in length and her plasma acylcarnitine profile was consistent with long-chain 3-hydroxyacylCoA dehydrogenase deficiency. This diagnosis was confirmed by enzyme studies. This deficiency was due to a G1528C mutation on the paternal allele (mutation on the maternal allele as yet not identified). The patient improved dramatically with medium-chain triglyceride supplementation.
  
  
  CONCLUSIONS
  Early cholestasis and hepatic fibrosis must lead to search for long-chain 3-hydroxyacylCoA dehydrogenase deficiency, particularly when hypoketotic hypoglycaemia is present.
authors.affiliation: Department of Pediatrics and Biochemistry, Hĵpital Necker Enfants-Malades, Paris, France.
authors.forename: M H
authors.initials: MH
authors.lastname: Odievre
authors.forename: C
authors.initials: C
authors.lastname: Sevin
authors.forename: J
authors.initials: J
authors.lastname: Laurent
authors.forename: J P
authors.initials: JP
authors.lastname: Laboureau
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.forename: M
authors.initials: M
authors.lastname: Brivet
authors.forename: C
authors.initials: C
authors.lastname: Roe
authors.forename: R J A
authors.initials: RJ
authors.lastname: Wanders
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain; D001707:Biopsy, Needle; D002779:Cholestasis / Q000209:etiology* / Q000473:pathology; D044943:Fatty Acid Desaturases / Q000172:deficiency* / Q000378:metabolism*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis* / Q000178:diet therapy; D008103:Liver Cirrhosis / Q000209:etiology* / Q000473:pathology; D018570:Risk Assessment; D012720:Severity of Illness Index
chemical_list: D044943:Fatty Acid Desaturases; D044942:Acyl-CoA Dehydrogenase, Long-Chain