Phenylketonuria differential diagnosis
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Phenylketonuria Microchapters |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Differential Diagnosis
Conditions coursing with:
Intellectual developmental disability such as: cerebral palsy, inborn errors of metabolism like fatty acid oxidation disorders, lysosomal disorders, hyperhomocysteinemias and amnio acid disorders, creatine deficiencies. [1]
Seizures: Inherited neurotransmitter and non-neurotransmitter disorders, primary seizures.[2]
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.