Phenylketonuria differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Differential Diagnosis

Phenylketonuria must be differentiated from other causes of intellectual developmental disbaility, seizures, anxiety/depression, and characteristic urine odors:[1][2][3][4]


Intellectual developmental disability

Seizures

  • Inherited neurotransmitter and non-neurotransmitter disorders
  • Primary seizure disorders

Anxiety and/or depression

  • Urea cycle disorders
  • Organic acidurias
  • Maple syrup urine disease
  • Tyrosinemia type 1

Characteristic urine odor

Maple syrup urine disease

  • Methylmalonic acidemia
  • Propionic acidemia

References

  1. Leach EL, Shevell M, Bowden K, Stockler-Ipsiroglu S, van Karnebeek CD (2014). "Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review". Orphanet J Rare Dis. 9: 197. doi:10.1186/s13023-014-0197-2. PMC 4273454. PMID 25433678.
  2. Mercimek-Mahmutoglu S, Sidky S, Hyland K, Patel J, Donner EJ, Logan W; et al. (2015). "Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study". Orphanet J Rare Dis. 10 (1): 12. doi:10.1186/s13023-015-0234-9. PMC 4342151. PMID 25758715.
  3. Zeltner NA, Huemer M, Baumgartner MR, Landolt MA (2014). "Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review". Orphanet J Rare Dis. 9: 159. doi:10.1186/s13023-014-0159-8. PMC 4219016. PMID 25344299.
  4. Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA; et al. (2014). "Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia". Orphanet J Rare Dis. 9: 130. doi:10.1186/s13023-014-0130-8. PMC 4180313. PMID 25205257.