Disease Information for Ketothiolase deficiency

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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

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

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External Links Related to Ketothiolase deficiency
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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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