Phenylketonuria differential diagnosis: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Phenylketonuria}} | {{Phenylketonuria}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} [[User:Yanira Gavidia|Yanira Gavidia, M.D.]] | ||
==Overview== | ==Overview== | ||
Phenylketonuria must be differentiated from other causes of intellectual developmental disability, [[seizures]], [[anxiety]]/[[depression]], and characteristic [[urine odor]]s, such as other [[inborn errors of metabolism]], [[cerebral palsy]], inherited neurotransmitter disorders, and primary seizure disorders. | |||
==Differential Diagnosis== | ==Differential Diagnosis== | ||
Phenylketonuria must be differentiated from other causes of intellectual developmental disability, 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 disorder]]s | |||
*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 disorder]]s | |||
*[[Organic aciduria]]s | |||
*[[Maple syrup urine disease]] | |||
*[[Tyrosinemia]] type 1 | |||
===Characteristic urine odor=== | |||
*[[Maple syrup urine disease]] | |||
*[[Methylmalonic acidemia]] | |||
*[[Propionic acidemia]] | |||
==References== | ==References== | ||
{{Reflist|2}} | |||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
[[Category:Neurology]] | [[Category:Neurology]] | ||
[[Category: | [[Category:Endocrinology]] | ||
{{WS}} | |||
{{WH}} | |||
Latest revision as of 13:12, 26 July 2016
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Phenylketonuria Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Phenylketonuria On the Web |
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American Roentgen Ray Society Images of Phenylketonuria |
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
- 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
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.