Long-chain 3-hydroxyacylCoA dehydrogenase deficiency: a new case presenting with liver dysfunction, cholestasis and fibrosis.
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.
Odievre
M H
MH
Department of Pediatrics and Biochemistry, Hĵpital Necker Enfants-Malades, Paris, France.
Sevin
C
C
Laurent
J
J
Laboureau
J P
JP
Rabier
D
D
Brivet
M
M
Roe
C
C
Wanders
R J A
RJ
Saudubray
J M
JM
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
D044943:Fatty Acid Desaturases; D044942:Acyl-CoA Dehydrogenase, Long-Chain