Long chain acyl-coA dehydrogenase (LCHAD) deficiency

Description

Long chain acyl-CoA dehydrogenase (LCHAD) deficiency is an autosomal recessive disorder of fatty acid metabolism (MIM 201460), caused by a deficiency of the long-chain hydroxyacyl-CoA dehydrogenase (HADHA) enzyme. Tandem mass spectrometry of organic acids in urine, and carnitines in blood spots, allows the diagnosis to be unequivocally determined due to the accumulation of specific undegraded compounds. LCHAD deficiency is clinically heterogeneous but is often characterised by cardiomyopathy, skeletal myopathy, hypoglycemia, pigmentary retinopathy or sudden infant death. An additional clinical complication can occur in the pregnant mothers of affected fetuses; they may experience maternal acute fatty liver of pregnancy (AFLP) syndrome or hypertension/haemolysis, elevated liver enzymes and low platelets (HELLP) syndrome. The gene encoding the HADHA enzyme is located at 2p23. The mutation, c.1528G>C, causes the replacement of the amino acid glutamic acid with glutamine at codon 510 (p.Glu510Gln), this results in loss of LCHAD activity and accounts for approximately 87% of mutant alleles.

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Additional information

Clinically affected patients should have their diagnosis confirmed by biochemical analysis. Affected patients can then be referred for mutation testing. If the necessary patient samples are unavailable genetic testing can be undertaken in the parents of an affected child. Pregnant patients who have AFLP can be referred for carrier testing, along with their partners. Testing for the presence of the common c.1528G>C mutation (p.Glu510Gln) in the HADHA gene by PCR & restriction enzyme digest. Screening of the remainder of the gene is not available. Download additional information >

Sending address

Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
Barclay House
37 Queen Square
London
WC1N 3BH