Propionic acidemia: Difference between revisions

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Revision as of 13:45, 3 June 2016

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Any Disease from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Treatment

Case Studies

Case #1

Template:WH Template:WS

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-{{DiseaseDisorder infobox |
+__NOTOC__
-  Name           = Propionic acidemia |
+{{ Propionic acidemia  }}
-  ICD10          = {{ICD10|E|71|1|e|70}} |
-  ICD9           = {{ICD9|270.3}} |
-  ICDO           = |
-  Image          = Propionic acid structure.png  |
-  Caption        = [[Propionic acid]] |
-  OMIM           = 606054 |
-  MedlinePlus    = |
-  eMedicineSubj  = ped |
-  eMedicineTopic = 1906 |
-  DiseasesDB     = 29673 |
-  DiseasesDB_mult = {{DiseasesDB2|29904}} |
-}}
-{{SI}}
-{{Editor Help}}
-'''Propionic acidemia''' is an inherited disorder of [[Inborn errors of metabolism|inborn error]] of intermediary [[metabolism]] that may present in the early [[neonatal]] period with progressive [[encephalopathy]].  Death can occur at anytime due to secondary [[hyperammonemia]], infection due to immune system suppression, cardiomyopathy, or basal ganglial stroke.
+{{CMG}}
-==Incidence==
+==[[Propionic acidemia  overview|Overview]]==
-[[Image:autorecessive.jpg|thumb|left|Propionic acidemia is inherited in an [[Recessive gene|autosomal recessive]] pattern.]]
-Propionic acidemia is inherited in an [[autosomal recessive]] pattern and occurs in about 1 in 100,000 live births in the United States. The condition appears to be more common in Saudi Arabia with a frequency of 1 in 2,000 to 5,000 people. The condition also appears to be more common in Old Order Amish populations.
-==Symptoms==
+==[[Propionic acidemia  historical perspective|Historical Perspective]]==
-Individuals with propionic acidemia are unable to process certain amino acids, which make up protein, and [[lipid]]s properly. The condition, which usually appears in early infancy, is characterized by poor feeding, [[vomit]]ing, weak [[muscle]] tone ([[hypotonia]]), seizures, and [[lethargy]]. The effects of propionic acidemia can be life-threatening.
-==Cause==
+==[[Propionic acidemia  classification|Classification]]==
-Mutations in the [[PCCA]] and [[PCCB]] [[gene]]s cause propionic acidemia. The PCCA and PCCB genes make protein subunits that come together to form an [[enzyme]] called [[propionyl-CoA carboxylase]] ({{EC number|6.4.1.3}}). This enzyme is responsible for one step in the breakdown of several [[amino acids]], certain lipids, and [[cholesterol]]. Mutations in the PCCA or PCCB gene disrupt the function of the enzyme, preventing these molecules from being broken down. As a result, a substance called [[propionyl-CoA]], [[propionic acid]] and other potentially [[toxic]] compounds can accumulate, causing the signs and symptoms of propionic acidemia.
-==See also==
+==[[Propionic acidemia  pathophysiology|Pathophysiology]]==
-* [[Methylmalonic acidemia]]
-* [[Isovaleric acidemia]]
-==External links==
+==[[Propionic acidemia  causes|Causes]]==
-*[http://www.pafoundation.com  Propionic Acidemia Foundation]
-*[http://www.oaanews.org  Organic Acidemia Association]
-*[http://www.paresearch.org  Propionic Acidemia Research Network (PARnet)]
-* {{NLM|propionicacidemia}} ''This article incorporates public domain text from this source''
-{{Endocrine, nutritional and metabolic pathology}}
+==[[Propionic acidemia  differential diagnosis|Differentiating Any Disease from other Diseases]]==
-{{SIB}}
-[[Category:Genetic disorders]]
+==[[Propionic acidemia  epidemiology and demographics|Epidemiology and Demographics]]==
-[[Category:Genetic Disease]]
-[[Category:Inborn errors of metabolism]]
+==[[Propionic acidemia  risk factors|Risk Factors]]==
-[[Category:Needs patient information]]
-{{WikiDoc Help Menu}}
+==[[Propionic acidemia  screening|Screening]]==
-{{WikiDoc Sources}}
+==[[Propionic acidemia  natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
+==Diagnosis==
+[[Propionic acidemia history and symptoms|History and Symptoms]] | [[Propionic acidemia  physical examination|Physical Examination]] | [[Propionic acidemia  laboratory findings|Laboratory Findings]] | [[Propionic acidemia  electrocardiogram|Electrocardiogram]] |[[Propionic acidemia  chest x ray|Chest X Ray]] | [[Propionic acidemia  CT|CT]] | [[Propionic acidemia  MRI|MRI]] |  | [[Propionic acidemia  other imaging findings|Other Imaging Findings]] | [[Propionic acidemia  other diagnostic studies|Other Diagnostic Studies]]
+==Treatment==
+[[Propionic acidemia medical therapy|Medical Therapy]] | [[Propionic acidemia  surgery|Surgery]] | [[Propionic acidemia  primary prevention|Primary Prevention]] | [[Propionic acidemia  secondary prevention|Secondary Prevention]] | [[Propionic acidemia  cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Propionic acidemia  future or investigational therapies|Future or Investigational Therapies]]
+==Case Studies==
+[[Propionic acidemia case study one|Case #1]]
+[[Category:Projects]]
+[[Category:Help]]
+{{WH}}
+{{WS}}

Propionic acidemia: Difference between revisions

Revision as of 13:45, 3 June 2016

Diagnosis

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