Phenylketonuria classification

Jump to navigation Jump to search

Phenylketonuria Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Phenylketonuria from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Phenylketonuria On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Phenylketonuria

All Images
X-ray X-rays
Ultrasound Echo & Ultrasound
CT CT Images
MRI MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Phenylketonuria

CDC on Phenylketonuria

Phenylketonuria in the news

Blogs on Phenylketonuria

Directions to Hospitals Treating Phenylketonuria

Risk calculators and risk factors for 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

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

  1. 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.
  2. 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.
  3. 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.

Template:WS Template:WH