that cardiac decompensation can be avoided in MCD-deficient patients. Finally, by analogy with fatty acid oxidation disorders such as medium-chain acyl-CoA dehydrogenase deficiency (13), one may conclude that knowledge of the diagnosis will improve outcome because early intervention is then possible in catabolic episodes that otherwise may lead to metabolic derange-ment. It therefore seems reas...

Mitochondrial trifunctional protein (MTP) is a recently identified enzyme involved in mitochondrial b -oxidation, harboring long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and long-chain 3-ketothiolase activity. A deficiency of this protein is associated with impaired oxidation of long-chain fatty acids which can lead to sudden infant death. Furthermore, it is...

Aluminium Phosphide poisoning and glucose‐6‐phosphate dehydrogenase deficiency are two commonly seen clinical presentations in Iran. However, hemolysis associated with Aluminium Phosphide poisoning is very rare. We report a case of concurrent Aluminium Phosphide poisoning and glucose‐6‐phosphate dehydrogenase deficiency in a 24 year old man presenting with intravascular hemolysis. Key words...

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of mitochondrial fatty acid beta-oxidation in humans. To better understand the pathogenesis of this disease, we developed a mouse model for MCAD deficiency (MCAD-/-) by gene targeting in embryonic stem (ES) cells. The MCAD-/- mice developed an organic aciduria and fatty liver, and showed profound cold in...

Medium-chain acyl CoA dehydrogenase (MCAD) (acylCoA: (acceptor) 2,3-oxidoreductase, EC 1.3.99.3) deficiency in two patients, MY and AH, was examined by use of an anti-MCAD antibody and the cDNA for the enzyme. No MC AD protein was detected by immunoblot analysis in the fibroblast extract from the first patient MY, while it was present. but not catalytically active in the second patient AH. In o...

Medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCADH; EC 1.3.99.3) deficiency (MCD) is an inborn error of beta-oxidation. We measured 3H2O formed by the dehydrogenation of [2,3-3H]acyl-CoAs in a 3H-release assay. Short-chain acyl-CoA dehydrogenase (SCADH; EC 1.3.99.2), MCADH, and isovaleryl-CoA dehydrogenase (IVDH; EC 1.3.99.10) activities were assayed with 100 microM [2,3-3H]butyryl-, -octa...

In addition to several other enzymes, the short-chain alcohol dehydrogenase superfamily includes a group of peroxisomal multifunctional enzymes involved in fatty acid and cholesterol side-chain beta-oxidation. Mammalian peroxisomal multifunctional enzyme type 2 (perMFE-2) is a 2-enoyl-CoA hydratase-2/(R)-3-hydroxyacyl-CoA dehydrogenase. As has been shown previously, perMFE-2 hydrates (24E)-3alp...

Background Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a mitochondrial fatty acid oxidation disorder that causes episodic attacks, such as general fatigue, hypotonia, myalgia, and rhabdomyolysis accompanied by lack of energy. As yet, there are no preventative drugs for these VLCADD-associated metabolic attacks. Patients methods We conducted an open-label, non-randomized, multi...