PKU type 1

Introduction: PKU type 1

Description of PKU type 1

PKU type 1: 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).
Source: Diseases Database

PKU type 1: Related Topics

These medical condition or symptom topics may be relevant to medical information for PKU type 1:

• PKU
• Type

Terms associated with PKU type 1:

Terms Similar to PKU type 1:

• Phenylketonuria 1
• Phenylalanine hydroxylase deficiency
• Følling's syndrome
• Folling's disease

Source: Diseases Database

External links related to: PKU type 1

• Dietary interventions for phenylketonuria (Cochrane Review)
• Tyrosine supplementation for phenylketonuria (Cochrane Review)
• GeneReviews: Phenylalanine Hydroxylase Deficiency
• OMIM - PHENYLKETONURIA
• eMedicine - Phenylketonuria : Article by Georgianne L Arnold, MD
• Følling's disease (www.whonamedit.com)
• eMedicine - Phenylketonuria : Article by Zeljko P Mijuskovic, MD
• Phenylketonuria - Genetics Home Reference

Source: Diseases Database

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