- AKU; Alkaptonuria; Homogentisic acid oxidase deficiency; Alkaptonuric ochronosis ... A defect in the HGD gene causes alkaptonuria. The gene defect makes the body unable to properly break down the amino acids tyrosine and phenylalanine. As a result, a substance called ...
- ... air. Learn more about the gene associated with Alkaptonuria HGD Inheritance This condition is inherited in an ... Information & Resources Genetic Testing Information Genetic Testing Registry: Alkaptonuria Genetic and Rare Diseases Information Center Alkaptonuria Patient ...
- ... the body. Health Conditions Related to Genetic Changes Alkaptonuria More than 65 mutations in the HGD gene have been identified in people with alkaptonuria. Most of these mutations change single amino acids ...
- ... published></health-condition-summary><health-condition-summary ><name >Alkaptonuria</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
- ... scoliosis AIS, see Androgen insensitivity syndrome AKU, see Alkaptonuria Al-Aqeel Sewairi syndrome, see Multicentric osteolysis, nodulosis, ... Sternberg syndrome, see McCune-Albright syndrome Alcaptonuria, see Alkaptonuria Alcohol addiction, see Alcohol use disorder Alcohol dependence, ...
- Disorders like phenylketonuria (PKU) and maple syrup urine disease cause problems with how your body uses proteins. Learn more about them. ... Metabolism is the process ...
- ... see Homocystinuria Homocystinuria Homogentisic acid oxidase deficiency, see Alkaptonuria Homogentisic acidura, see Alkaptonuria Homozygous PAI-1 deficiency, ...
- ... topic><topic ><url >https://medlineplus.gov/genetics/condition/alkaptonuria</url><title >Alkaptonuria</title><other_names ><other_name >AKU</other_name>< ...
- ... November 15, 2002; Last Update: January 8, 2015. Alkaptonuria Wendy J Introne and William A Gahl. Initial ...
- ... total urine amino acids may be due to: Alkaptonuria Canavan disease Cystinosis Cystathioninuria Fructose intolerance Galactosemia Hartnup ...
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