2003年5月9日 · Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine …

Alkaptonuria is a rare inherited genetic disease which is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2-dioxygenase (EC 1.13.11.5); if a person inherits an …

2023年8月8日 · Alkaptonuria is a rare genetic inborn error of protein metabolism. It is the result of the deficiency of an enzyme (homogentisate 1,2 dioxygenase - HGD), leading to the …

Alkaptonuria (AKU) is a rare autosomal recessive disorder with a global incidence of 1 in 250 000 to 1 million people worldwide. It results from a deficiency of the enzyme homogentisic acid …

2023年5月19日 · 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 …

2017年6月26日 · Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional …

2024年3月7日 · Alkaptonuria (AKU), also known as homogentisate 1,2-dioxygenase (HGD) deficiency (OMIM #203500), was described by Sir Archibald Garrod in 1902 as the first inborn …

2011年1月13日 · Alkaptonuria is a recessive genetic deficiency resulting in the incomplete oxidation of tyrosine and phenylalanine, causing increased levels of homogentisic (or melanic) …

Alkaptonuria is an autosomal recessive disorder caused by a deficiency of the enzyme homogentisate 1,2-dioxygenase. This enzyme deficiency results in increased levels of …

Alkaptonuria is a rare autosomal recessive (AR) metabolic disorder occurring due to deficiency of the enzyme homogentisate 1,2 dioxygenase which is involved in the metabolism of tyrosine. …