Phenylketonuria classification: Difference between revisions
Jump to navigation
Jump to search
Line 7: | Line 7: | ||
===Subtypes of phenylketonuria=== | ===Subtypes of phenylketonuria=== | ||
According to Phe levels PKU can be classified as:<ref name="pmid25958326">{{cite journal| author=Regnault A, Burlina A, Cunningham A, Bettiol E, Moreau-Stucker F, Benmedjahed K et al.| title=Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients' and parents' quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires. | journal=Orphanet J Rare Dis | year= 2015 | volume= 10 | issue= 1 | pages= 59 | pmid=25958326 | doi=10.1186/s13023-015-0261-6 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25958326 }} </ref> <ref name="pmid25757997">{{cite journal| author=Scala I, Concolino D, Casa RD, Nastasi A, Ungaro C, Paladino S et al.| title=Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. | journal=Orphanet J Rare Dis | year= 2015 | volume= 10 | issue= 1 | pages= 14 | pmid=25757997 | doi=10.1186/s13023-015-0227-8 | pmc=PMC4351928 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25757997 }} </ref> | According to Phe levels PKU can be classified as:<ref name="pmid25958326">{{cite journal| author=Regnault A, Burlina A, Cunningham A, Bettiol E, Moreau-Stucker F, Benmedjahed K et al.| title=Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients' and parents' quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires. | journal=Orphanet J Rare Dis | year= 2015 | volume= 10 | issue= 1 | pages= 59 | pmid=25958326 | doi=10.1186/s13023-015-0261-6 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25958326 }} </ref> <ref name="pmid25757997">{{cite journal| author=Scala I, Concolino D, Casa RD, Nastasi A, Ungaro C, Paladino S et al.| title=Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. | journal=Orphanet J Rare Dis | year= 2015 | volume= 10 | issue= 1 | pages= 14 | pmid=25757997 | doi=10.1186/s13023-015-0227-8 | pmc=PMC4351928 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25757997 }} </ref> | ||
* Mild: < 360 | * Mild (mPKU): < 360 μmol/L | ||
* Moderate: 360–1200 μmol/L | * Moderate (moPKU): 360–1200 μmol/L | ||
* Classical: >1200 μmol/L | * Classical (cPKU): >1200 μmol/L | ||
===Maternal phenylketonuria=== | ===Maternal phenylketonuria=== |
Revision as of 03:37, 25 May 2015
Phenylketonuria Microchapters |
Diagnosis |
---|
Treatment |
Case Studies |
Phenylketonuria On the Web |
American Roentgen Ray Society Images of Phenylketonuria |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:
Overview
Classification
Subtypes of phenylketonuria
According to Phe levels PKU can be classified as:[1] [2]
- Mild (mPKU): < 360 μmol/L
- Moderate (moPKU): 360–1200 μmol/L
- Classical (cPKU): >1200 μmol/L
Maternal phenylketonuria
References
- ↑ Regnault A, Burlina A, Cunningham A, Bettiol E, Moreau-Stucker F, Benmedjahed K; et al. (2015). "Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients' and parents' quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires". Orphanet J Rare Dis. 10 (1): 59. doi:10.1186/s13023-015-0261-6. PMID 25958326.
- ↑ Scala I, Concolino D, Casa RD, Nastasi A, Ungaro C, Paladino S; et al. (2015). "Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience". Orphanet J Rare Dis. 10 (1): 14. doi:10.1186/s13023-015-0227-8. PMC 4351928. PMID 25757997.