MCAD deficiency (a fatty acid oxidation defect) is the most common defect in the pathway of mitochondrial beta-oxidation.The most frequent presentation is episodic hypoketotic hypoglycaemia provoked by fasting and beginning in the first 2 years of life. Accumulation of fatty acid intermediates results in plasma and urinary metabolites, some of which are general indicators of impaired function of the Beta -oxidation pathway (e.g. dicarboxylic acids), while others are unique and characteristic of MCAD deficiency Patients with MCAD deficiency can appear normal, but in some cases, the first episode is fatal and can resemble sudden infant death syndrome (SIDS) .Diagnosis can be made by analysis of plasma acylcarnitines or urinary acylglycines or by molecular analysis. The common mutation c.985A>G accounts for >87% of mutant alleles in Europeans.
We accept referrals from patients with hypoglycaemia, follow up samples from new born screening and post mortem SUDI (sudden unexpected death of an infant) samples. We can also offer this mutation testing for at risk family members and carrier testing.
Price & reporting times
HS 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.985A>G (p.Lys329Glu) is the common MCADD mutation in the ACADM gene and accounts for >90% of mutant alleles in Europeans. Approximately 18% of patients clinically diagnosed with MCADD carry one copy of the c.985A>G (p.Lys329Glu) mutation and a second ACADM mutation.
5ml EDTA blood sample
Please see our referral guidelines for more information.
OMIM Number(s) - 201450
Gene(s) - ACADM