HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Phenylketonurias (Phenylketonuria)

A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
Also Known As:
Phenylketonuria; Classical Phenylketonuria; Deficiency Disease, Phenylalanine Hydroxylase; Folling Disease; Hyperphenylalaninaemia; Non Phenylketonuric Hyperphenylalaninemia; Phenylalanine Hydroxylase Deficiency Disease; BH4 Deficiency; DHPR Deficiency; Deficiency Disease, Dihydropteridine Reductase; Deficiency Disease, Phenylalanine Hydroxylase, Severe; Dihydropteridine Reductase Deficiency; Folling's Disease; HPABH4C; Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism; Hyperphenylalaninemia, BH4-Deficient, C; Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency; Non-Phenylketonuric Hyperphenylalaninemia; Oligophrenia Phenylpyruvica; PAH Deficiency; PKU, Atypical; Phenylalanine Hydroxylase Deficiency; Phenylalanine Hydroxylase Deficiency Disease, Severe; Phenylketonuria I; Phenylketonuria II; Phenylketonuria Type 2; Phenylketonuria, Atypical; Phenylketonuria, Classical; QDPR Deficiency; Quinoid Dihydropteridine Reductase Deficiency; Tetrahydrobiopterin Deficiency; Atypical PKU; Atypical Phenylketonuria; Biopterin Deficiencies; Deficiency, BH4; Deficiency, Biopterin; Deficiency, DHPR; Deficiency, Dihydropteridine Reductase; Deficiency, PAH; Deficiency, Phenylalanine Hydroxylase; Deficiency, QDPR; Deficiency, Tetrahydrobiopterin; Disease, Folling; Disease, Folling's; Hyperphenylalaninemia, Non Phenylketonuric; Non-Phenylketonuric Hyperphenylalaninemias; Biopterin Deficiency; Dihydropteridine Reductase Deficiency Disease; Hyperphenylalaninemia, Non-Phenylketonuric
Networked: 3454 relevant articles (92 outcomes, 291 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Phenylketonurias (Phenylketonuria)
2. Maple Syrup Urine Disease
3. Homocystinuria
4. Metabolic Diseases (Metabolic Disease)
5. Maternal Phenylketonuria

Experts

1. Blau, Nenad: 61 articles (01/2022 - 01/2002)
2. van Spronsen, Francjan J: 55 articles (01/2022 - 10/2004)
3. MacDonald, Anita: 54 articles (05/2022 - 08/2002)
4. Thöny, Beat: 41 articles (10/2022 - 01/2002)
5. Harding, Cary O: 30 articles (01/2022 - 11/2003)
6. Rocha, Júlio César: 26 articles (02/2022 - 01/2010)
7. MacDonald, A: 26 articles (01/2021 - 07/2002)
8. Muntau, Ania C: 25 articles (09/2021 - 12/2002)
9. Daly, Anne: 22 articles (05/2022 - 01/2011)
10. Vockley, Jerry: 21 articles (06/2022 - 05/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Phenylketonurias:
1. Phenylalanine (L-Phenylalanine)FDA Link
2. sapropterin (tetrahydrobiopterin)FDA Link
3. Tyrosine (L-Tyrosine)FDA Link
4. Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA
5. Proteins (Proteins, Gene)FDA Link
6. Amino AcidsFDA Link
7. EnzymesIBA
8. pegvaliaseIBA
9. Phenylalanine Ammonia-LyaseIBA
10. Dopamine (Intropin)FDA LinkGeneric

Therapies and Procedures

1. Therapeutics
2. Diet Therapy (Therapy, Diet)
3. Vegetarian Diet (Vegetarianism)
4. Ligation
5. Child Restraint Systems