Gourt > Health > Conditions and Diseases > Genetic Disorders > Propionic Acidemia
Propionic acidemia is an inherited disorder of 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.
Incidence
Propionic acidemia is inherited in a 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.
Symptoms
Individuals with propionic acidemia are unable to process certain amino acids, which make up protein, and lipids properly. The condition, which usually appears in early infancy, is characterized by poor feeding, vomiting, weak muscle tone (hypotonia), seizures, and lethargy. The effects of propionic acidemia can be life-threatening. More on [ Propionic acidemia ]
Rare Disorders :: Conditions and Diseases
Posted #stroke updt Stroke-like episodes in propionic acidemia caused by c.. http://bit.ly/13D86G asktheneurologist
NeuroTweeter (NeuroTweeter) Thu, 08 Oct 2009 10:21:39 -0000
Posted #stroke updt Stroke-like episodes in propionic acidemia caused by c.. http://bit.ly/13D86G asktheneurologist
Dr. Greene: Breastfeeding with a Metabolic Disorder and Propionic Acidemia - Breastfeeding a child with propionic acidemia is discussed in this question and answer format.
Meta Description: [ Breastfeeding a child with propionic acidemia is discussed in this question and answer format. ]
NORD: Acidemia, Propionic - Includes the synonyms, a general discussion and further resources.
Meta Description: [ National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. ]
Propionic Acidemia Foundation - The PAF is an organization that funds academic and medical research leading to better treatments and a cure of propionic acidemia, an inborn error of metabolism.
Propionic Acidemia Research Network - PARnet's mission is to create a network of academic and clinical
professionals dedicated to finding better treatments and a cure for propionic
acidemia (PA). We provide funding via the Organic Acidemia Association for
basic PA research studies.
Meta Description: [ Propionic acidemia is an inborn error of metabolism affecting approximately 1/50,000 newborns in the United States annually. Gene therapy research is being conducted at two major US institutions to provide better treatments and ultimatly a cure for this disorder. PA individuals cannot metaboliz... ]
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