Disease Information for Fatty acid oxidation/metabolic syndromes

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Clinical Manifestations
Signs & Symptoms
Anorexia in Children
Palpable Liver/Hepatomegaly
Proximal muscle weakness
Clinical Presentation & Variations
Presentation/Non diabetic Ketoacidosis Kids infants
Demographics & Risk Factors
Family History
Family history/Hypoglycemia
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Enzyme Assay plasma/tissue/fibroblast abnormal
Hypoketotic hypoglycemia (Lab)
Newborn screening tests abnormal (extended)
Associated Diseases & Rule outs
Associated Disease & Complications
Fatty acid oxidation/Metabolic syndromes
Hypoglycemia
Hypoglycemia, infantile
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Process
PROCESS/Fatty acid Oxidation Disorders (FOD)
PROCESS/Metabolic/storage disorder (category)
Definition

Group of metabolic syndromes; fatty acid oxidation syndromes cause hypoglycemia without ketones; present with seizures, hypotonia, acute encephalopathy, severe anorexia, vomiting; hepatomegaly, later cardiomyopathy, tachypnea; metabolic acidosis, hyperammonemia, hypoglycemia, hypoketosis;increaseed lactate/pyruvate and liver enzymes; much acidoses causes are Acyl-CoA dehydrogenase defects long and medium chain, [MCAD, LCAD]glutaric acidemia type II [Multiple Acyl-CoA defects],Carnitine deficiency {primary and secondary]; and unclassified fatty acid oxidation disorders

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External Links Related to Fatty acid oxidation/metabolic syndromes
Google
Wikipedia
Merck
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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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