Name short: MCADD

Name long: Medium-chain acyl-CoA dehydrogenase deficiency

Description: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of MCAD deficiency typically appear during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood sugar (hypoglycemia). In rare cases, symptoms of this disorder are not recognized early in life, and the condition is not diagnosed until adulthood. People with MCAD deficiency are at risk of serious complications such as seizures, breathing difficulties, liver problems, brain damage, coma, and sudden death.

Incidence in the US 2001-2010: 1554 in 27.6 million screens (60 cases per million).

Implicated genes:
Acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain, ACADM


Variants in ACADM (see gnomAD page):
total variable positions: 491
rare variants: 0
common variants: 0
Allele frequency of rare (<0.001) variants and the implied number of homozygotes and compound heterozygotes, per million births (under the naive assumption that gnomAD captures all variants present in the human population; PSC = premature stop codon):

Population All rare variants Rare, resulting in PSC Rare, not intronic and not silent Known disease related All presumably detrimental
all 0 => 0 0 => 0 0 => 0 0 => 0 0 => 0
afr 0 => 0 0 => 0 0 => 0 0 => 0 0 => 0
amr 0 => 0 0 => 0 0 => 0 0 => 0 0 => 0
asj 0 => 0 0 => 0 0 => 0 0 => 0 0 => 0
eas 0 => 0 0 => 0 0 => 0 0 => 0 0 => 0
fin 0 => 0 0 => 0 0 => 0 0 => 0 0 => 0
nfe 0 => 0 0 => 0 0 => 0 0 => 0 0 => 0
oth 0 => 0 0 => 0 0 => 0 0 => 0 0 => 0
sas 0 => 0 0 => 0 0 => 0 0 => 0 0 => 0


Expected number of homozygotes/compound heterozygotes in a demographic profile close to the US, using all known (as in, listed in gnomAD) rare nontrivial variants as causative variants: 0.

Expected number of homozygotes/compound heterozygotes in a demographic profile close to the US, using all presumably harmful variants as causative variants: 0.

Enzyme structure. Representative chain shown as white cartoon, with positions of known mutations shown as red sticks. Blue: physiological ions. Pink: substrates and cofactors.



Total estimated number of casses per million (all presumably harmful variants): 0.

Back