The HGD gene provides instructions for making an enzyme called homogentisate 1,2-dioxygenase. Learn about this gene and related health conditions.

May 19, 2023 · Alkaptonuria is a rare inherited disorder. It occurs when your body can’t produce enough of an enzyme called homogentisic dioxygenase (HGD). This enzyme is used to break …

Alkaptonuria is a rare condition in which a person's urine turns a dark brownish-black color when exposed to air. Alkaptonuria is part of a group of conditions known as an inborn error of …

Pathophysiology of alkaptonuria (AKU) is due to the absence of functional homogentisate dioxygenase (HGD) in the liver. The HGD enzyme is involved in the metabolism (chemical …

High grade dysplasia (HGD) refers to precancerous changes in the cells of the esophagus.

Jul 17, 2025 · HGD (Homogentisate 1,2-Dioxygenase) is a Protein Coding gene. Diseases associated with HGD include Alkaptonuria and Tyrosinemia. Among its related pathways are …

Mutations in the homogentisate 1,2-dioxygenase (HGD) gene cause AKU and they are responsible for deficient levels of functional HGD, which, in turn, leads to excess levels of HGA.

Jun 2, 2023 · The HGD gene, also known as the homogentisate 1,2-dioxygenase gene, is the gene associated with alkaptonuria. Alkaptonuria is a rare inherited metabolic disorder …

Jun 26, 2017 · Mutations in the HGD gene cause alkaptonuria. Alkaptonuria is a genetic disorder, and urine that turns dark is present from birth. However, additional symptoms usually do not …

The HGD gene provides instructions for making an enzyme called homogentisate 1,2-dioxygenase. This enzyme helps break down the amino acids phenylalanine and tyrosine, …