Phenylketonuria classification: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Phenylketonuria}} | {{Phenylketonuria}} | ||
{{CMG}} {{AE}} | {{CMG}}; {{AE}} | ||
==Overview== | ==Overview== | ||
==Classification== | ==Classification== | ||
===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> | |||
* Mild (mPKU): < 360 μmol/L | |||
* Moderate (moPKU): 360–1200 μmol/L | |||
* Classical (cPKU): >1200 μmol/L | |||
===Maternal phenylketonuria=== | ===Maternal phenylketonuria=== | ||
Maternal Phenylketonuria (MPKU)<ref name="pmid23478721">{{cite journal| author=Arrieta Blanco F, Bélanger Quintana A, Vázquez Martínez C, Martínez Pardo M| title=[Importance of early diagnosis of phenylketonuria in women and control of phenylalanine levels during pregnancy]. | journal=Nutr Hosp | year= 2012 | volume= 27 | issue= 5 | pages= 1658-61 | pmid=23478721 | doi=10.3305/nh.2012.27.5.5945 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23478721 }} </ref> is a complication of PKU, caused by the teratogenic effects of high levels of Phe in the fetus. MPKU was first described by Charles Dent in 1956. | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
[[Category:Neurology]] | [[Category:Neurology]] | ||
[[Category: | [[Category:Endocrinology]] | ||
{{WS}} | |||
{{WH}} | |||
Latest revision as of 13:11, 26 July 2016
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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
Maternal Phenylketonuria (MPKU)[3] is a complication of PKU, caused by the teratogenic effects of high levels of Phe in the fetus. MPKU was first described by Charles Dent in 1956.
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.
- ↑ Arrieta Blanco F, Bélanger Quintana A, Vázquez Martínez C, Martínez Pardo M (2012). "[Importance of early diagnosis of phenylketonuria in women and control of phenylalanine levels during pregnancy]". Nutr Hosp. 27 (5): 1658–61. doi:10.3305/nh.2012.27.5.5945. PMID 23478721.