Phenylketonuria differential diagnosis

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

Overview

Phenylketonuria must be differentiated from other causes of intellectual developmental disability, seizures, anxiety/depression, and characteristic urine odors, such as other inborn errors of metabolism, cerebral palsy, inherited neurotransmitter disorders, and primary seizure disorders.

Differential Diagnosis

Phenylketonuria must be differentiated from other causes of intellectual developmental disability, 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

Characteristic urine odor

References

↑ 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.
↑ 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.
↑ 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.
↑ 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.

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[pmid25433678-1] 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.

[pmid25758715-2] 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.

[pmid25344299-3] 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.

[pmid25205257-4] 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.

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