PAH

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Web Resources for PAH
 ICD-10 search


Genetic Databases
GENE database on PAH
Online Mendelian Inheritance in Man (OMIM) on PAH
Pharmacogenomics Knowledge Base (pharmGKB) on PAH
Catalogue Of Somatic Mutations In Cancer (COSMIC) on PAH
Genome information (GenomeNet, KEGG) on PAH
SNP database on PAH
Protein Knowledgebase (UniProtKB) on PAH
Relevant Clinical Literature
Pubmed on PAH
RCT with PAH
Systematic reviews of PAH
PAH in N Eng J Med, Lancet, JAMA, BMJ
PAH in Cochrane Collaboration
TRIP Database on PAH
Google Scholar on PAH
Bandolier on PAH
UK Guidance
SNOMED search
NHS Evidence on PAH
Centre for Reviews and Dissemination databases -DARE & NHS EED (evaluates reliability of research)
Nice Guidance on PAH
Prodigy Guidance on PAH
Other Wikis
Wikipedia on PAH (Less technical, ? quality control)

The PAH gene at 12q23.2 codes for the 452 amino acid enzyme phenylalanine-4-hydroxylase. Marked deficiency in phenylalanine-4-hydroxylase causes about 98% of phenylketonuria by failure of the reaction requiring ferrous ion as a cofactor:

L-phenylalanine + tetrahydrobiopterin + O2 -> L-tyrosine + 4a-hydroxytetrahydrobiopterin

Milder forms of hyperphenylalaninaemia where enzyme activity is greater than 20% of normal are known from variations in PAH.

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Categories: Clinical genetics | Genes
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