SCIENTIFIC BACKGROUND

ACADM

Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) is an autosomal recessively inherited disorder of ß-oxidation of fatty acids. A study of over 930,000 newborns in the U.S. found an incidence of 1:15,000. Previous estimates for the Caucasian population are in the same range. It is probably the most common disorder of fatty acid metabolism of all. The disease is characterized by intolerance to periods of fasting. Homozygous carriers often become ill in infancy after periods of fasting due to viral infections. They typically suffer from repeated vomiting, hypoketotic hypoglycemia, and are lethargic up to comatose. In rare cases, the disease can also lead to sudden infant death syndrome. Biochemical diagnosis can be made by determination of acetylcarnithine in the blood. MCAD deficiency is usually detected as part of newborn screening by tandem mass spectrometry.

 

MCAD deficiency is caused by pathogenic variants in the medium-chain acyl-CoA dehydrogenase gene (ACADM). The most common causative variant, leading to amino acid substitution Lys329Glu, is detectable in approximately 90% of alleles from patients with MCAD deficiency. In most patients this variant is homozygous, in about 1/5 of patients it is present in a combined heterozygous form with another variant. Therapeutically, periods of fasting should be strictly avoided by eating regular meals.

 

References
Matern et al. 2015, GeneReviews® [Internet] / Maier et al. 2009, Hum Mol Genet 18:1612 / Wilcken et al. 2007, Lancet 369:37 / Rhead 2006, J Inherit Metab Dis 29:370 / Derks et al. 2006, Pediatr 148:665

GENES

ACADM

ASSOCIATED TESTS

How to order

LATEST ARTICLES

Have you ever wondered how jet-setting across the globe might affect your gut health? A recent study has dug into this intriguing question, revealing...

Read more

In June 2023, Medicover Genetics attended the 56th conference of the European Society of Human Genetics (ESHG) which took place in Glasgow, Scotland....

Read more

Vitamin D, also known as “the sunshine vitamin”, is a fat-soluble vitamin that helps the body absorb calcium and phosphate, which are essential f...

Read more

Every movement our body makes is controlled by a long, thin, tube-like structure called the “spinal cord”. The spinal cord is part of our nervous...

Read more

Genetic variant databases are vital for interpreting genetic variations in clinical settings and research. However, misclassified variants can create...

Read more

A recent article published by our team in the International Journal of Molecular Sciences [1], aimed to evaluate the prevalence, prognostic and predi...

Read more

A healthy, nutritious and well-balanced diet is always important for a person’s well-being, and it is even more so during pregnancy as the developi...

Read more

The sun is hot and you are sweating. Most of us know how it feels to sweat, and when we sweat. This is a normal bodily response to an increase in tem...

Read more

All about the pancreas The pancreas is a pear-shaped organ that is located at the upper left side of the abdomen, behind the stomach. It has two m...

Read more

The father of genetics is Gregor Mendel. Mendel was an Austrian monk, whose experiments breeding pea plants in the monastery garden led to breakthrou...

Read more