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Alkaptonuria

An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.
Networked: 224 relevant articles (3 outcomes, 6 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Tyrosinemias (Tyrosinemia)
2. Rheumatic Diseases (Rheumatism)
3. Ochronosis
4. Metabolic Diseases (Metabolic Disease)
5. Arthritis (Polyarthritis)

Experts

1. Santucci, Annalisa: 15 articles (11/2015 - 10/2010)
2. Braconi, Daniela: 14 articles (11/2015 - 10/2010)
3. Millucci, Lia: 13 articles (11/2015 - 10/2010)
4. Bernardini, Giulia: 13 articles (11/2015 - 10/2010)
5. Spreafico, Adriano: 9 articles (01/2014 - 10/2010)
6. Laschi, Marcella: 8 articles (09/2015 - 10/2010)
7. Gallagher, James A: 8 articles (09/2015 - 10/2010)
8. Ranganath, Lakshminarayan R: 8 articles (09/2015 - 02/2011)
9. Gahl, William A: 7 articles (02/2012 - 09/2002)
10. Ranganath, L R: 6 articles (01/2015 - 02/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Alkaptonuria:
1. nitisinone (Orfadin)FDA Link
2. Homogentisic AcidIBA
3. Tyrosine (L-Tyrosine)FDA Link
4. HerbicidesIBA
5. phenylpyruvic acidIBA
6. Homogentisate 1,2-Dioxygenase (Homogentisate 1,2 Dioxygenase)IBA
7. 4-hydroxyphenylpyruvic acidIBA
8. AntigensIBA
9. Phenylalanine (L-Phenylalanine)FDA Link
10. Melanins (Melanin)IBA

Therapies and Procedures

1. Prostheses and Implants (Prosthesis)
2. Protein-Restricted Diet (Diet, Protein Restricted)
3. Diskectomy (Discectomy)
4. Liver Transplantation
5. Kidney Transplantation