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Alpha-aminoadipic and alpha-ketoadipic aciduria

Index Alpha-aminoadipic and alpha-ketoadipic aciduria

Alpha-aminoadipic and alpha-ketoadipic aciduria is an autosomal recessive metabolic disorder characterized by an increased urinary excretion of alpha-ketoadipic acid and alpha-aminoadipic acid. [1]

7 relations: Alpha-aminoadipate pathway, Alpha-Ketoadipic acid, DHTKD1, Dominance (genetics), Mutation, Oxoglutarate dehydrogenase complex, Urinary system.

Alpha-aminoadipate pathway

The amino acid L-lysine The α-aminoadipate pathway is a biochemical pathway for the synthesis of the amino acid L-lysine.

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Alpha-Ketoadipic acid

α-Ketoadipic acid (or 2-oxoadipate) is an intermediate in the metabolism of lysine.

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DHTKD1

Dehydrogenase E1 and transketolase domain containing 1 is a protein that in humans is encoded by the DHTKD1 gene.

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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Mutation

In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.

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Oxoglutarate dehydrogenase complex

The oxoglutarate dehydrogenase complex (OGDC) or α-ketoglutarate dehydrogenase complex is an enzyme complex, most commonly known for its role in the citric acid cycle.

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Urinary system

The urinary system, also known as the renal system or urinary tract, consists of the kidneys, ureters, bladder, and the urethra.

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References

[1] https://en.wikipedia.org/wiki/Alpha-aminoadipic_and_alpha-ketoadipic_aciduria

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