Phenylketonuria differential diagnosis: Difference between revisions
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==Differential Diagnosis== | ==Differential Diagnosis== | ||
Phenylketonuria must be differentiated from other causes of intellectual developmental disbaility, seizures, anxiety/depression, and characteristic urine odors:<ref name="pmid25433678">{{cite journal| author=Leach EL, Shevell M, Bowden K, Stockler-Ipsiroglu S, van Karnebeek CD| title=Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review. | journal=Orphanet J Rare Dis | year= 2014 | volume= 9 | issue= | pages= 197 | pmid=25433678 | doi=10.1186/s13023-014-0197-2 | pmc=PMC4273454 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25433678 }} </ref><ref name="pmid25758715">{{cite journal| author=Mercimek-Mahmutoglu S, Sidky S, Hyland K, Patel J, Donner EJ, Logan W et al.| title=Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. | journal=Orphanet J Rare Dis | year= 2015 | volume= 10 | issue= 1 | pages= 12 | pmid=25758715 | doi=10.1186/s13023-015-0234-9 | pmc=PMC4342151 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25758715 }} </ref><ref name="pmid25344299">{{cite journal| author=Zeltner NA, Huemer M, Baumgartner MR, Landolt MA| title=Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review. | journal=Orphanet J Rare Dis | year= 2014 | volume= 9 | issue= | pages= 159 | pmid=25344299 | doi=10.1186/s13023-014-0159-8 | pmc=PMC4219016 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25344299 }} </ref><ref name="pmid25205257">{{cite journal| author=Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA et al.| title=Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. | journal=Orphanet J Rare Dis | year= 2014 | volume= 9 | issue= | pages= 130 | pmid=25205257 | doi=10.1186/s13023-014-0130-8 | pmc=PMC4180313 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25205257 }} </ref> | |||
===Intellectual developmental disability=== | |||
*[[Cerebral palsy]] | |||
*Fatty acid oxidation disorders | |||
*Lysosomal disorders | |||
*[[Hyperhomocysteinemia]] | |||
*[[Amino acid disorder]]s | |||
*[[Creatine deficiencies]] | |||
===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== | ==References== | ||
Revision as of 15:18, 10 June 2015
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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
- Cerebral palsy
- Fatty acid oxidation disorders
- Lysosomal disorders
- Hyperhomocysteinemia
- Amino acid disorders
- Creatine deficiencies
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
- ↑ 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.