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6-pyruvoyl-tetrahydropterin synthase deficiency

PROM mutation in 6-pyruvoyl-tetrahydropterin synthase
Also Known As:
HPABH4A; Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; Hyperphenylalaninemia, BH4-Deficient, Type A; Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To PTS Deficiency; PTPS deficiency; PTS Deficiency
Networked: 60 relevant articles (3 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Phenylketonurias (Phenylketonuria)
2. B BH4-Deficient Hyperphenylalaninemia
3. Multiple Acyl Coenzyme A Dehydrogenase Deficiency
4. Self Mutilation
5. Multiple Carboxylase Deficiency (Deficiency, Multiple Carboxylase)

Experts

1. Blau, Nenad: 6 articles (09/2020 - 12/2005)
2. Thöny, Beat: 5 articles (05/2021 - 12/2005)
3. Ye, Jun: 5 articles (09/2013 - 02/2002)
4. Porta, Francesco: 4 articles (09/2020 - 03/2008)
5. Hsiao, Kwang-Jen: 4 articles (04/2019 - 02/2006)
6. Liu, Tze-Tze: 4 articles (04/2019 - 02/2006)
7. Niu, Dau-Ming: 4 articles (11/2011 - 02/2006)
8. Blau, N: 4 articles (12/2009 - 01/2000)
9. Spada, Marco: 3 articles (09/2020 - 04/2012)
10. Ponzone, Alberto: 3 articles (11/2016 - 03/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to 6-pyruvoyl-tetrahydropterin synthase deficiency:
1. Neurotransmitter Agents (Neurotransmitter)IBA
2. AminesIBA
3. sepiapterinIBA
4. BiopterinsIBA
5. 6-pyruvoyltetrahydropterin synthase (PTPS)IBA
6. tetrahydropterinIBA
7. sapropterin (tetrahydrobiopterin)FDA Link
8. Phenylalanine (L-Phenylalanine)FDA Link
9. Levodopa (L Dopa)FDA LinkGeneric
10. GTP Cyclohydrolase (GTP Cyclohydrolase I)IBA

Therapies and Procedures

1. Therapeutics
2. Treatment Delay