Disease Information for Carnitine/Acylcarnitine translocase deficiency

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Clinical Manifestations
Signs & Symptoms
Awkward Uncoordinated Child
Limb Ataxia
Limb ataxia/clumsiness child
Clinical Presentation & Variations
Presentation/Non diabetic Ketoacidosis Kids infants
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)
Abnormal Lab Findings - Decreased
Carnitine level (LAB)
Associated Diseases & Rule outs
Associated Disease & Complications
Fatty acid oxidation/Metabolic syndromes
Hypoglycemia, infantile
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Process
PROCESS/Fatty acid Oxidation Disorders (FOD)
PROCESS/Metabolic/storage disorder (category)
Definition

rare metabolic disorder; positive neonatal screening tests

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External Links Related to Carnitine/Acylcarnitine translocase 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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