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
Conditions coursing with:
Intellectual developmental disability such as: cerebral palsy, inborn errors of metabolism (IEM) 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]
Anxiety and/or depression: IEM such as urea cycle disorders, organic acidurias, maple syrup urine disease, tyrosinemia type 1.[3]
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.