homogentisate 1,2-dioxygenase


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ho·mo·gen·tis·ate 1,2-di·ox·y·gen·ase

(hō'mō-jen'tis-āt dī-oks'i-jen-ās),
An iron-containing enzyme that catalyzes the oxidative cleavage of the benzene ring in homogentisic acid by O2, forming 4-maleylacetoacetate; an absence or deficiency of this enzyme will result in alcaptonuria.
Synonym(s): homogentisic acid oxidase
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The diagnosis was confirmed by molecular analysis of the homogentisate 1,2-dioxygenase (HGD) gene, which revealed a homozygous pathogenic variant (c.360 T>G) causing the substitution of a highly conserved cysteine residue for tryptophan.
Dark Colored Urine in a 2-Year-Old Child
This includes 4-hydroxyphenylpyruvate dioxygenase (4-HPPD, HpdA), homogentisate 1,2-dioxygenase (HmgA), indoleamine 2,3-dioxygenase (IDO), and cysteine dioxygenase (CDG).
Fungal Dimorphism and Virulence: Molecular Mechanisms for Temperature Adaptation, Immune Evasion, and In Vivo Survival
Alkaptonuria (AKU; MIM number 203500) is an ultra-rare (1: 250.000-1.000.000 incidence) autosomal recessive inborn error of catabolism of the aromatic amino acids due to a deficient activity of the enzyme homogentisate 1,2-dioxygenase (HGD) leading to the accumulation of homogentisic acid (2,5-dihydroxyphenylacetic acid; HGA).
Amyloidosis, inflammation, and oxidative stress in the heart of an alkaptonuric patient

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