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Index Hawkinsinuria

Hawkinsinuria, also called 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency, is an autosomal dominant metabolic disorder affecting the metabolism of tyrosine. [1]

8 relations: Dominance (genetics), Hawkinsin, Homogentisic acid, Inborn errors of metabolism, Metabolic acidosis, Tyrosine, Tyrosinemia type III, 4-Hydroxyphenylpyruvate dioxygenase.

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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Hawkinsin is an amino acid.

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Homogentisic acid

Homogentisic acid (2,5-dihydroxyphenylacetic acid) is a phenolic acid usually found in Arbutus unedo (strawberry-tree) honey.

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Inborn errors of metabolism

Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism.

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Metabolic acidosis

Metabolic acidosis is a condition that occurs when the body produces excessive quantities of acid or when the kidneys are not removing enough acid from the body.

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Tyrosine (symbol Tyr or Y) or 4-hydroxyphenylalanine is one of the 20 standard amino acids that are used by cells to synthesize proteins.

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Tyrosinemia type III

Tyrosinemia type III is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, encoded by the gene HPD.

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4-Hydroxyphenylpyruvate dioxygenase

4-Hydroxyphenylpyruvate dioxygenase (HPPD), also known as α-ketoisocaproate dioxygenase (KIC dioxygenase), is an Fe(II)-containing non-heme oxygenase that catalyzes the second reaction in the catabolism of tyrosine - the conversion of 4-hydroxyphenylpyruvate into homogentisate.

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Redirects here:

4 alpha hydroxyphenylpyruvate hydroxylase deficiency, 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency.


[1] https://en.wikipedia.org/wiki/Hawkinsinuria

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