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. Conclusion: Early cholestasis and hepatic fibrosis must lead to search for long‐chain 3‐hydroxyacylCoA dehydrogenase deficiency, particularly when hypoketotic hypoglycaemia is present.