Disease Information for Proprionic acidemia/congenital

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Clinical Manifestations
Signs & Symptoms
Awkward Uncoordinated Child
Delayed speech/language development
Development Motor Skills (Milestones) Delayed
Infant Seizures
Limb Ataxia
Limb ataxia/clumsiness child
Seizures/Children/recurrent
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Neonatal metabolic screening (mass spec) abnormal
Newborn screening tests abnormal (extended)
Abnormal Lab Findings - Increased
Anion gap (Lab)
pH, arterial blood (Lab)
Associated Diseases & Rule outs
Associated Disease & Complications
Acidosis
Acidosis, metabolic
Hypochloremic metabolic alkalosis
Hypoglycemia
Hypoglycemia, infantile
Metabolic Acidosis with High Anion Gap
Proprionic acidemia/congenital
Thrombocytopenia
Thrombocytopenia in Children
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Urea cycle metabolic defect
Process
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Ketotic hypergycemia syndromes
PROCESS/Metabolic/storage disorder (category)
PROCESS/Organic acidemia metabolic disorder (ex)
Definition

Acidemia, Propionic;Hyperglycinemia with Ketoacidosis and Lactic Acidosis, Propionic Type;Ketotic Glycinemia

PCC Deficiency;Propionyl CoA Carboxylase Deficiency.

Disorder Subdivisions:Propionic Acidemia, Type I (PCCA Deficiency)and Propionic Acidemia, Type II (PCCB Deficiency); Propionic Acidemia is a rare metabolic disorder characterized by deficiency of propionyl CoA carboxylase, an enzyme involved in the breakdown (catabolism) of the chemical "building blocks" (amino acids) of certain proteins; Symptoms most commonly become apparent during the first weeks of life and may include abnormally diminished muscle tone (hypotonia), poor feeding, vomiting, listlessness (lethargy), excessive loss of fluids from bodily tissues (dehydration), and episodes of uncontrolled electrical activity in the brain (seizures); Without appropriate treatment, coma and potentially life-threatening complications may result; In rare cases, the condition may become apparent later during infancy and may be associated with less severe symptoms and findings; Propionic Acidemia is inherited as an autosomal recessive trait [NORD 2005]

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External Links Related to Proprionic acidemia/congenital
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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