Alkaptonuria (AKU)

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OMIM 57 203500 Disease Ontology 12 DOID:9270 ICD10 33 E70.29 MeSH 44 D000474 NCIt 50 C84546 SNOMED-CT 68 24250001 Orphanet 59 ORPHA56

UMLS via Orphanet 74 C0002066 C2931645 ICD10 via Orphanet 34 E70.2 MESH via Orphanet 45 C537862 D000474 MedGen 42 C0002066 KEGG 37 H00163 SNOMED-CT via HPO 69 258211005 9713002 128274005 72089000 204164000 275259005 24184005 38341003 3723001 108367008 87642003 271771009 84445001 17790008 22298006 445512009 38716007 225655006 396275006 414564002 57676002 399269003 35912001 161891005 250978003 473372009 67362008 240211000 77547008 415749005 more UMLS 73 C0002066 C1444199 C2931645

OMIM : ⁵⁷ Alkaptonuria is an autosomal recessive metabolic disorder characterized by accumulation of homogentisic acid, leading to darkened urine, pigmentation of connective tissue (ochronosis), joint and spine arthritis, and destruction of the cardiac valves (summary by Vilboux et al., 2009). Alkaptonuria enjoys the historic distinction of being one of the first conditions in which mendelian recessive inheritance was proposed (by Garrod, 1902, on the suggestion of Bateson) and of being 1 of the 4 conditions in the charter group of inborn errors of metabolism. The manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and arthritis, especially characteristic in the spine. (203500)

MalaCards based summary : Alkaptonuria, also known as homogentisic acid oxidase deficiency, is related to ochronosis and inherited metabolic disorder, and has symptoms including back pain An important gene associated with Alkaptonuria is HGD (Homogentisate 1,2-Dioxygenase), and among its related pathways/superpathways are Tyrosine metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. The drugs Nitisinone and tyrosine have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and prostate, and related phenotypes are joint dislocation and osteoarthritis

Disease Ontology : ¹² An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.

Genetics Home Reference : ²⁵ Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue-black pigmentation usually appears after age 30. People with alkaptonuria typically develop arthritis, particularly in the spine and large joints, beginning in early adulthood. Other features of this condition can include heart problems, kidney stones, and prostate stones.

NIH Rare Diseases : ⁵³ Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. The three major features of alkaptonuria are the presence of dark urine, ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, and arthritis of the spine and larger joints. Ochronosis starts after age 30 and arthritis in early adulthood. Other features of this condition can include heart problems, kidney stones, and prostate stones. Alkaptonuria is caused by mutations in the HGD gene. It is inherited in an autosomal recessive fashion. There is still no cure for this disease. Treatment includes the management of joint pain, physical and occupational therapy, joint replacements and surgery when needed.

UniProtKB/Swiss-Prot : ⁷⁵ Alkaptonuria: An autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis.

Wikipedia : ⁷⁶ Alkaptonuria is a rare inherited genetic disorder in which the body cannot process the amino acids... more...

GeneReviews: NBK1454

Clinical features from OMIM:

203500

Search NIH Clinical Center for Alkaptonuria

Search GEO for disease gene expression data for Alkaptonuria.