Disease Information for Hydroxybutyric acidemia

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Laboratory Tests
Abnormal Lab Findings (Non Measured)
Neonatal metabolic screening (mass spec) abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Acidosis
Acidosis, metabolic
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Process
PROCESS/Metabolic/storage disorder (category)
PROCESS/Organic acidemia metabolic disorder (ex)
Definition

organic acidemia class of metanbolic syndrome;

4-hydroxybutyric acidemia caused by succinic semialdehyde dehydrogenase deficiency presents with seizures and developmental retardation; 4 hydroxybutyric acid in urine

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External Links Related to Hydroxybutyric acidemia
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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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