Disease Information for Carnitine palmityltranferase deficiency

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Clinical Manifestations
Signs & Symptoms
Massive Hepatomegaly
Awkward Uncoordinated Child
Limb Ataxia
Limb ataxia/clumsiness child
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)
Enzyme Assay plasma/tissue/fibroblast abnormal
Hypoketotic hypoglycemia (Lab)
Neonatal metabolic screening (mass spec) abnormal
Newborn screening tests abnormal (extended)
Associated Diseases & Rule outs
Rule Outs
Muscular dystrophy
Associated Disease & Complications
Hypoglycemia, infantile
Rhabdomyolysis
Disease Mechanism & Classification
Class
CLASS/Muscle disorder (ex)
CLASS/Muscle/tendon/extremities (category)
CLASS/Striated muscle disorder (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Metabolic myopathy (ex)
Process
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Fatty acid Oxidation Disorders (FOD)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Mitochondrial disorders (ex)
Definition
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External Links Related to Carnitine palmityltranferase deficiency
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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