Defects in Trifunctional enzyme subunit alpha (HADHA gene) are the cause of long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) Biochemically, LCHAD deficiency is characterized by reduced long-chain 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of the Trifunctional protein complex are normal or only slightly reduced. There is considerable heterogeneity in LCHAD deficiency, including fulminant hepatic disease, hypertrophic cardiomyopathy and in some patients unusual features such as progressive neuropathy and pigmentary retinopathy. Most patients with LCHAD deficiency present with signs of fasting induced hypoketotic hypoglycemia. During pregnancy, mothers of affected infants can develop acute fatty liver of pregnancy or hypertension, elevated liver enzymes and low platelets (HELLP) syndrome. The common missense mutation c.1528G>C in LCHAD deficiency accounts for 87% of mutant alleles in patients with LCHAD.<
We accept referrals from patients with hypoglycaemia and post mortem SUDI (sudden unexpected death of an infant) samples. Women who are carriers of LCHAD are at risk for pregnancy complications such as HELLP syndrome and acute fatty liver of pregnancy (AFLP) if the unborn child is affected with LCHAD and so we accept maternal samples from such pregnancies. We can also offer this mutation testing for at risk family members and carrier testing.
Price & reporting times
NHS referrals to this service are paid for where there is an existing specialist commissioning contract for genetic testing. In other cases please contact the lab for prices.
|Test||Price (NHS)||Price (non-NHS)||TRT (calendar days)|
|Single mutation test||POA||POA||28|
Test validation & quality assurance - information for users
c.1528G>C (p.Glu510Gln) is the common LCHAD mutation in the HADHA gene and accounts for 87% of mutant alleles in patients with LCHAD.
5ml EDTA blood sample
Please see our referral guidelines for more information.
OMIM Number(s) - 609016
Gene(s) - HADHA