Disease Information for Pipecolic acidemia

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Clinical Manifestations
Signs & Symptoms
Mental Deficiency Child
Mental/motor retardation in children/signs
Psychomotor retardation
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
Abnormal Lab Findings - Increased
Lysine, serum (Lab)
Diagnostic Test Results
Other Tests & Procedures
Amniocentesis/Abnormality
Associated Diseases & Rule outs
Associated Disease & Complications
Acidosis
Acidosis, metabolic
Cerebrohepatorenal syndrome
Mental retardation
Pipecolicacidemia
Zellweger Cerebrhepatorenal syndrome
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus 17q21.31
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Aminoacid metabolic disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Organic acidemia metabolic disorder (ex)
Synonyms
Synonym
Acidemia Hyperpipecolic, Acidemias Hyperpipecolic, HYPERPIPECOLATEMIA, Hyperpipecolic acidaemia, HYPERPIPECOLIC ACIDEMIA, Hyperpipecolic Acidemias, Synonym/Pipecolatemia, Synonym/Zellweger syndrome/cerebrohepatorenal, Synonym/Zellweger's syndrome
Treatment
Other Treatments
TX/Restricted long chain fatty acid diet
TX/Specific aminoacid restricted special diet
Definition
Be the first to add a definition for Pipecolic acidemia
External Links Related to Pipecolic acidemia
Google
Wikipedia
Merck
Images
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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