Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency (MCADD) malady

NIH Rare Diseases:⁴² Medium-chain acyl-coenzyme a dehydrogenase deficiency (mcadd) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. people with mcadd do not have enough of an enzyme needed for the step that metabolizes a group of fats called medium-chain fatty acids. mcadd is caused by mutations in the acadm gene and is inherited in an autosomal recessive manner. treatment includes avoidance of fasting and of medium chain triglycerides in the diet. last updated: 7/7/2014

MalaCards based summary: Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency, also known as mcad deficiency, is related to reye syndrome and cystic fibrosis, and has symptoms including autosomal recessive inheritance, seizures and muscular hypotonia. An important gene associated with Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency is ACADM (acyl-CoA dehydrogenase, C-4 to C-12 straight chain). Affiliated tissues include liver.

Genetics Home Reference:²² 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).

OMIM:⁴⁶ Inherited deficiency of medium-chain acyl-CoA dehydrogenase is characterized by intolerance to prolonged fasting,... (201450) more...

GeneReviews summary for mcad

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OMIM46 201450 MESH via Orphanet35 C536038

ICD10 via Orphanet27 E71.3 UMLS via Orphanet62 C0220710

Symptoms by clinical synopsis from OMIM:

201450

Clinical features from OMIM:

201450

HPO human phenotypes related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

(show all 17)

id	Description	Frequency	HPO Source Accession
1	autosomal recessive inheritance		HP:0000007
2	seizures		HP:0001250
3	muscular hypotonia		HP:0001252
4	lethargy		HP:0001254
5	coma		HP:0001259
6	global developmental delay		HP:0001263
7	hepatic steatosis		HP:0001397
8	metabolic acidosis		HP:0001942
9	metabolic acidosis		HP:0001942
10	hypoglycemia		HP:0001943
11	vomiting		HP:0002013
12	cerebral edema		HP:0002181
13	hepatomegaly		HP:0002240
14	elevated hepatic transaminases		HP:0002910
15	hyperglycinuria		HP:0003108
16	decreased plasma carnitine		HP:0003234
17	medium chain dicarboxylic aciduria		HP:0008309

Search GEO for disease gene expression data for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency.