MCAD deficiency

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.

MCAD deficiency

Medium-chain acyl-CoA dehydrogenase deficiency, see there.
References in periodicals archive ?
We were able to save about 15 babies with medium-chain acyl-CoA dehydrogenase or MCAD deficiency, a condition that prevents the body from converting certain fats in food to energy," Dr al-Rifai said, adding: "The early detection has allowed for early treatment.
Clinical outcomes for MCAD deficiency are now excellent, and data on some of the other screened disorders are starting to show the benefit of early diagnosis.
MCAD deficiency is the lack of an enzyme that makes it impossible to digest certain kinds of fat.
A lack of medical research meant that the genetic syndrome, MCAD Deficiency, claimed the lives of two of her siblings and nearly killed a third.
An Assembly Government spokesman said: "Work is under way to introduce screening tests for MCAD deficiency and sickle cell disorders by 2011.
During evidence, Mr Williams, a special needs carer, said screening for MCAD deficiency was not available in Wales for new babies when Sofia was born.
Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.
The pattern of inheritance seen with MCAD deficiency is autosomal recessive, so it's even worth thinking about in cases of full SIDS, because of the clear implications for future children in that family, she said.
The March of Dimes is convinced that tandem mass spectrometry has reached the point where we can recommend it for MCAD deficiency testing for every baby and are pleased it is available in California," said Nancy Green, M.
Simone, it seems, would have been one of the few who would have slipped through the net as most people with MCAD deficiency have a common mutation while others are rarer and harder to diagnose.
These observations led to the expansion of newborn screening by tandem mass spectrometry, in which most newborns are now screened for MCAD deficiency and a number of other inborn errors of metabolism.