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phenylketonuria (PKU)
Pathology:
- hyperphenylalaninemia
Genetics:
- autosomal recessive form associated with defects in PAH
- associated with defects in DBT gene
- severe atypical form associated with defects in GCH1 gene
Clinical manifestations:
- progressive neurologic illness
- mental retardation
- severe muscular hypotonia
- light pigmentation
- rashes similar to eczema
- epilepsy
- unpleasant 'mousy' odor
- mood disorder*
- hyperactivity/inattention*
- executive dysfunction*
- impulsivity*
- psychotic states*
* manifestations of non-compliance with low phenylalanine diet
Laboratory:
- phenylalanine in dried blood spot (screening)
- phenylalanine in blood
- concentrations of phenylalanine persistently > 1200 pM (normal concentration 100 pM)
- PAH gene mutation
Management:
- low phenylalanine diet is introduced early in life
- sapropterin (Kuvan) may help some patients
- a vegetarian diet or a diet that restricts animal proteins is insufficient for control of phenylketonuria [4]
Related
dihydrolipamide acyltransferase E2 (keto acid dehydrogenase E2, BCATE2 E2 subunit, DBT, BCKAD)
hyperphenylalaninemia
PAH gene mutation; phenylalanine hydroxylase gene mutation; phenylketonuria genotyping
screening for phenylketonuria
Specific
phenylketonuria 2 (dihydropteridine reductase deficiency)
General
amino acid inborn error of metabolism
metabolic brain disease
Properties
DEFICIENCY: dihydrolipamide acyltransferase E2
Database Correlations
OMIM 261600
References
- http://consensus.nih.gov/cons/113/113_intro.htm
- http://www.nichd.nih.gov/new/releases/pku.cfm
- OMIM :accession 261600
- NEJM Knowledge+ Endocrinology