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Phenylketonurias (Phenylketonuria) Summary

Description: 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 Show All >>

Networked: 2119 relevant articles (48 outcomes, 172 trials/studies) for this Disease

Key Drugs and Agents for Phenylketonurias

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Phenylalanine (L-Phenylalanine) : 25 outcomes 83 studies in 942 results : FDA 29
  2. 5,6,7,8-tetrahydrobiopterin (tetrahydrobiopterin) : 12 outcomes 13 studies in 189 results : FDA 1
  3. Tyrosine (L-Tyrosine) : 8 outcomes 6 studies in 157 results : FDA 12
  4. Phenylalanine Ammonia-Lyase : 3 outcomes 2 studies in 26 results : IBA
  5. Amino Acids : 3 outcomes in 57 results : FDA 53
  6. Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase) : 2 outcomes 23 studies in 494 results : IBA
  7. Biopterin : 2 outcomes 1 study in 32 results : IBA
  8. Dopamine (Intropin) : 2 outcomes 1 study in 22 results : FDA 36 Generic
  9. Neurotransmitter Agents (Neurotransmitter) : 1 outcome 4 studies in 32 results : IBA
  10. alpha-methylphenylalanine : 1 outcome 3 studies in 9 results : IBA
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Diseases Related to Phenylketonurias

  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)
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Key Therapies for Phenylketonurias

Efficacy Chart >>
  1. Vegetarian Diet (Vegetarianism) : 1 outcome in 3 results
  2. Therapeutics : 1 outcome in 2 results
  3. Ligation : 1 outcome in 2 results
  4. Child Restraint Systems : 1 outcome in 1 result
  5. Seat Belts (Seat Belt) : 1 outcome in 1 result
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