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- Disease Information
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Disease Information for Ketothiolase deficiency
- Clinical Manifestations
- Signs & Symptoms
- Awkward Uncoordinated Child
- Limb Ataxia
- Limb ataxia/clumsiness child
- Laboratory Tests
- Abnormal Lab Findings (Non Measured)
- Enzyme Assay plasma/tissue/fibroblast abnormal
- Neonatal metabolic screening (mass spec) abnormal
- Abnormal Lab Findings - Increased
- Ammonia blood (Lab)
- Associated Diseases & Rule outs
- Associated Disease & Complications
- Hyperammonemia
- Hypoglycemia, infantile
- Disease Mechanism & Classification
- Class
- CLASS/Pediatric disorders (ex)
- Process
- PROCESS/Metabolic/storage disorder (category)
- PROCESS/Organic acidemia metabolic disorder (ex)
- Synonyms
- Synonym
- Ketothiolase deficiency, Synonym/Beta ketothiolase deficiency
- Definition
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3-Ketothiolase enzyme deficiency; Ketotic hyperglycinemia syndrome in infancy; episodes of vomiting developmental delays and slow growth in older children; episodes include acidosis vomitinmg and encephalopathy; isoleucine load emphasizes urine abnormals with 2-methyl 3-hydroxybutyric acid and 2-Methylacetoacetic acid and triglycylglcine in urine; very rare.
Current Pediatric DXRX 14th 1999 Haye and Sondheimer
(Edit)
- External Links Related to Ketothiolase deficiency
- 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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