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Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD or PDH deficiency) is a rare neurodegenerative disorder associated with abnormal mitochondrial metabolism. PDCD is a genetic disease resulting from mutations in one of the components of the pyruvate dehydrogenase complex (PDC). [1]
Most individuals with G6PD deficiency are asymptomatic.When it induces hemolysis, the effect is usually short-lived. [5]Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD ...
D-glycerate dehydrogenase deficiency (or 3-phosphoglycerate dehydrogenase deficiency, PHGDH deficiency, PHGDHD) is a rare autosomal metabolic disease where the young patient is unable to produce an enzyme necessary to convert 3-phosphoglycerate into 3-phosphohydroxypyruvate, which is the only way for humans to synthesize serine.
Skin flushing and nasal congestion are the most common symptoms of intolerance after alcohol ingestion. [ 5 ] [ 6 ] It may also be characterized as intolerance causing hangover symptoms similar to the "disulfiram-like reaction" of aldehyde dehydrogenase deficiency or chronic fatigue syndrome .
ACADVL is linked with very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD), which has many symptoms, and typically presents as one of three phenotypes. The first is severe, with an early childhood onset and high mortality rate; the most common symptom is this form is cardiomyopathy. The second is a late onset childhood form, with ...
The name "dehydrogenase" is based on the idea that it facilitates the removal (de-) of hydrogen (-hydrogen-) and is an enzyme (-ase). Dehydrogenase reactions come most commonly in two forms: the transfer of a hydride and release of a proton (often with water as a second reactant), and the transfer of two hydrogens.
Branched-chain keto acid dehydrogenase kinase deficiency (BCKDK deficiency) is a disease resulting from mutations of the BCKDK gene. Patients with BCKDK deficiency have low levels of branched chain amino acids (BCAA) in their organism due to accelerated breakdown of these essential amino acids.
Glucose-6-phosphate dehydrogenase is also an enzyme in the Entner–Doudoroff pathway, a type of glycolysis. Clinically, an X-linked genetic deficiency of G6PD makes a human prone to non-immune hemolytic anemia. [3]