Medium-chain Acyl-coenzyme a Dehydrogenase Deficiency (MCADD) malady

NIH Rare Diseases:³⁹ Medium-chain acyl-coenzyme a dehydrogenase (mcad) deficiency is an inherited metabolic condition 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 mcad deficiency have inadequate levels of an enzyme required for the step that metabolizes a group of fats called medium-chain fatty acids. mutations in the acadm gene cause mcad deficiency.

MalaCards: Medium-chain Acyl-coenzyme a Dehydrogenase Deficiency, also known as mcad deficiency, is related to cystic fibrosis and reye syndrome, and has symptoms including micrognathia/retrognathia/micrognathism/retrognathism, postaxial polydactyly (hand) and hydrocephaly. An important gene associated with Medium-chain Acyl-coenzyme a Dehydrogenase Deficiency is ACADM (acyl-CoA dehydrogenase, C-4 to C-12 straight chain). The compounds acetyl-l-carnitine and bamhi have been mentioned in the context of this disorder. Affiliated tissues include liver and liver.

Genetics Home Reference:²⁰ 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:

GeneReviews summary for mcad

External Ids:

OMIM43 201450 MESH via Orphanet32 C536038 ICD10 via Orphanet24 E71.3

SNOMED-CT via Orphanet53 128596003 UMLS via Orphanet57 C0220710

Clinical features from OMIM:

Symptoms:

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micrognathia/retrognathia/micrognathism/retrognathism postaxial polydactyly (hand) hydrocephaly corpus callosum/septum pellucidum total/partial agenesis autosomal recessive inheritance stillbirth/neonatal death polyhydramnios prematurity deepset eyes/enophthalmos anomalies of nose and olfaction lateral cleft lip/gingival cleft/paramedian nasal cleft cleft palate without cleft lip/submucosal cleft palate/bifid uvula

low set ears/posteriorly rotated ears structural anomalies of the respiratory system and diaphragm laryngomalacia tracheal atresia/stenosis congenital cardiac anomaly/malformation/cardiopathy anophthalmos/anophthalmia/microphthalmos/microphthalmia short limbs/micromelia/brachymelia uterine/uterus/fallopian tubes anomalies undescended/ectopic testes/cryptorchidia/unfixed testes anencephaly/acrania holoprosencephaly/arhinencephaly/unique lateral ventricle