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Hyperlysinemia has an autosomal recessive pattern of inheritance. Hyperlysinemia is inherited in an autosomal recessive manner. [2] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
"Ketoglutaric acid" and "ketoglutarate", when not qualified as α or β, almost always refers respectively to α-ketoglutaric acid or α-ketoglutarate. [2] α-Ketoglutarate is an intermediate in the citric acid cycle, a cycle that supplies the energy to cells. [2] It is also an intermediate in or product of several other metabolic pathways.
This gene encodes a subunit that catalyzes the oxidative decarboxylation of alpha-ketoglutarate to Succinyl-CoA at its active site in the fourth step of the citric acid cycle by acting as a base to facilitate the decarboxylation. The main residues responsible for the catalysis are thought to be His 260, Phe 227, Gln685, His 729, Ser302, and His ...
Grapefruit. Grapefruit packs in a ton of nutrients for very few calories (half a grapefruit contains just 52 calories), making it one of the best-value fruits out there.High in vitamin C and ...
A deficiency in any of the enzymes of this complex as well as an inhibition of the complex as a whole leads to a buildup of branched-chain amino acids and their harmful derivatives in the body. These accumulations lend a sweet smell to bodily excretions (such as ear wax and urine), leading to a pathology known as maple syrup urine disease .
The Autoimmune Protocol (AIP) diet is an elimination diet designed to help reduce inflammation, manage symptoms and improve quality of life for people with autoimmune diseases.
13382 Ensembl ENSG00000091140 ENSMUSG00000020664 UniProt P09622 O08749 RefSeq (mRNA) NM_001289752 NM_000108 NM_001289750 NM_001289751 NM_007861 RefSeq (protein) NP_000099 NP_001276679 NP_001276680 NP_001276681 NP_031887 Location (UCSC) Chr 7: 107.89 – 107.93 Mb Chr 12: 31.38 – 31.4 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Dihydrolipoamide dehydrogenase (DLD), also known as ...
A substance found in pomegranates may improve memory and Alzheimer’s disease symptoms, new research finds. Experts explain urolithin A and brain health. Eating More of This Fruit May Improve ...