medium chain acyl-coenzyme A dehydrogenase deficiency

(redirected from MCADD)
Also found in: Dictionary, Thesaurus, Legal, Financial, Acronyms, Encyclopedia.

medium chain acyl-coenzyme A dehydrogenase deficiency

An autosomal recessive disease (OMIM:201450) of fatty acid oxidation due to an inability to catabolise fat to ketones and energy, seen in the first two years of life as either sudden unexplained death at home or, if in hospital, as Reye syndrome.
 
Clinical findings
Intolerance to fasting, episodic vomiting, lethargy, coma, seizure, sudden death.
 
Lab
Hypoketotic hypoglycaemia, medium-chain dicarboxylic aciduria.
 
Diagnosis
Mutation analysis of paraffin-embedded blocks of postmortem tissue.

Molecular pathology
Defects in ACADM, which encodes an enzyme that catalyses the initial step of the mitochondrial fatty acid beta-oxidation pathway, causes medium chain acyl-coenzyme A dehydrogenase deficiency.
 
Management
Preventive by early therapy, frequent feedings or a slow release source of carbohydrates (e.g., uncooked cornstarch); avoid fasting.

medium chain acyl-coenzyme A dehydrogenase deficiency


An AR disease of fatty acid oxidation seen in the first 2 yrs of life as either sudden unexplained death at home or, if in the hospital, as Reye syndrome, due to an inability to break down fat to ketones and energy Clinical Intolerance to fasting, episodic vomiting, lethargy, coma, seizure, sudden death Lab Hypoketotic hypoglycemia, medium-chain dicarboxylic aciduria Diagnosis Mutation analysis of paraffin-embedded blocks of postmortem tissue.
References in periodicals archive ?
Kay says that when crafting the plot of Max the Monkey, she drew inspiration from family walks to the park, where her son with MCADD would lag behind his older brother.
That realization--"I have MCADD, just like Max"--was evident in her son's behavior.
Among our MCADD cohort patients, we found three new ACADM mutations: two missense c.253G>C (p.Gly85Arg) and c.356T>A (p.Val119Asp), and one nonsense c.823G>T (p.Gly275 *), which contribute to delineate the molecular genetic heterogeneity of MCADD.
In this regard, it has been demonstrated that patients with MCADD are at risk of a symptomatic episode regardless of their genotype or of the initial C8 level on NBS.
Sensitivity for MS/ MS in screening for MCADD ranges from approximately 95% to 100% (Andersen et al., 2001; Chace, Hillman, Van Hove, & Naylor, 1997; Insinga et al., 2002; Maier et al., 2005; McCandless, 2004; Pandor, Eastham, Beverley, Chilcott, & Paisley, 2004; Pollitt et al., 1997; Seddon, Gray, Pollitt, Iitia, & Green, 1997; Tarini, Christakis, & Welch, 2006).
The model representing either MCADD or BKT is represented graphically as a decision tree in Figure 1.
A presumptively positive screening test for MCADD was defined by mean triplicate C8 values [greater than or equal to]0.50 [micro]mol/L.
This is the first multicenter cross-country study examining C8 concentrations in unaffected infants undergoing newborn screening for MCADD. Using large representative datasets from newborn screening programs in England and NSW, we demonstrated that C8 concentration does not vary by age at sampling within the first 2 weeks of life or by sex, birth weight, or length of gestation.
For example, if tandem mass spectrometry is already used for PKU and MCADD, then adding one more metabolic disorder seems to add only a little to the cost.
(20) Massachusetts mandates screening for MCADD but makes other testing optional.