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; Hyperphenylalaninaemias; Phenylalanine Hydroxylase Deficiency Disease; Deficiency Disease, Dihydropteridine Reductase; Deficiency Disease, Phenylalanine Hydroxylase, Severe; Folling's Disease; Oligophrenia Phenylpyruvica; Phenylalanine Hydroxylase Deficiency; Phenylalanine Hydroxylase Deficiency Disease, Severe; Phenylketonuria I; Phenylketonuria II; Phenylketonuria Type 2; Phenylketonuria, Atypical; Phenylketonuria, Classical; Atypical Phenylketonuria; Atypical Phenylketonurias; Classical Phenylketonurias; Deficiencies, Phenylalanine Hydroxylase; Deficiency, Phenylalanine Hydroxylase; Disease, Folling; Disease, Folling's; Diseases, Folling; Folling Diseases; Hydroxylase Deficiencies, Phenylalanine; Hydroxylase Deficiency, Phenylalanine; Hyperphenylalaninemia, Non Phenylketonuric; Hyperphenylalaninemias, Non-Phenylketonuric; Non-Phenylketonuric Hyperphenylalaninemia; Non-Phenylketonuric Hyperphenylalaninemias; Oligophrenia Phenylpyruvicas; Phenylalanine Hydroxylase Deficiencies; Phenylketonuria IIs; Phenylketonuria Is; Phenylketonuria Type 2s; Phenylketonurias, Atypical; Phenylketonurias, Classical; Phenylpyruvica, Oligophrenia; Phenylpyruvicas, Oligophrenia; Dihydropteridine Reductase Deficiency Disease; Hyperphenylalaninemia, Non-Phenylketonuric
Networked: 2119 relevant articles (48 outcomes, 172 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Phenylketonurias (Phenylketonuria)
2. Congenital Hypothyroidism (Cretinism)
3. Metabolic Diseases (Metabolic Disease)
4. Maternal Phenylketonuria
5. Type C Niemann-Pick Disease (Niemann Pick Disease, Type C)


1. Blau, Nenad: 35 articles (04/2015 - 02/2002)
2. van Spronsen, Francjan J: 22 articles (03/2015 - 10/2004)
3. Thöny, Beat: 18 articles (10/2015 - 01/2004)
4. Stevens, Raymond C: 17 articles (01/2012 - 12/2003)
5. Blau, N: 16 articles (12/2015 - 04/2000)
6. Muntau, Ania C: 15 articles (03/2015 - 12/2002)
7. MacDonald, A: 13 articles (12/2015 - 07/2002)
8. Wajner, Moacir: 12 articles (08/2015 - 04/2002)
9. Feillet, François: 12 articles (03/2015 - 03/2006)
10. Singh, Rani H: 12 articles (01/2015 - 03/2004)

Drugs and Biologics

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

Therapies and Procedures

1. Vegetarian Diet (Vegetarianism)
2. Therapeutics
3. Ligation
4. Child Restraint Systems
5. Seat Belts (Seat Belt)