Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Phenylketonuria classification
Introduction
Overview
Overview
Classification
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
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 MartÃnez C, MartÃnez 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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: