Disease Information for Hydroxymethylglutaryl CoA lyase deficiency

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Clinical Manifestations
Signs & Symptoms
Development Motor Skills (Milestones) Delayed
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Enzyme Assay plasma/tissue/fibroblast abnormal
Neonatal metabolic screening (mass spec) abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Hypoglycemia, infantile
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Process
PROCESS/Metabolic/storage disorder (category)
PROCESS/Organic acidemia metabolic disorder (ex)
Synonyms
Synonym
Hydroxymethylglutaryl CoA lyase deficiency, Synonym/HMG deficiency
Definition

3-Hydroxymethylglutaryl CoA lyase enzyme deficiency causes hypoglycemia and acidosis in infancy; Reye like syndrome episodes in older children with non ketotic hypoglycemia; urine shows 3-hydroxy-3methyl glutaric acid, 3-methyl glucagonic acid, 3-hydroxyisovalaic acid in urine; very rare

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External Links Related to Hydroxymethylglutaryl CoA lyase 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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