Long chain acyl-coA dehydrogenase (LCHAD) deficiency


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.

Request a test

When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.

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.

Sending address

Rare & Inherited Disease Laboratory
London North Genomic Laboratory Hub
Great Ormond Street Hospital for Children
Levels 4-6 Barclay House
37 Queen Square

Laboratory service


Sample requirements

1ml EDTA neonates, 5ml EDTA adults

Reference range

Not applicable

Turnaround time

10 days

Disease / group



Upon request

Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

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