Disease Information for Beta-hydroxyisolvaleric acidemia

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Clinical Manifestations
Signs & Symptoms
Awkward Uncoordinated Child
Limb Ataxia
Limb ataxia/clumsiness child
Mental Deficiency Child
Characteristic odor/body/fluids/urine
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Enzyme Assay plasma/tissue/fibroblast abnormal
Neonatal metabolic screening (mass spec) abnormal
URINE Particular Odor
Abnormal Lab Findings - Increased
Isovaleric acid level (Lab)
Leucine (Lab)
Diagnostic Test Results
Other Tests & Procedures
Amniocentesis/Abnormality
Amniocentesis/Prenatal enzyme assay/abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Acidosis
Acidosis, metabolic
Mental retardation
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hereditary disease renal effect
Process
PROCESS/Aminoacid metabolic disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Organic acidemia metabolic disorder (ex)
Treatment
Other Treatments
TX/Specific diet/avoidance
Definition
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External Links Related to Beta-hydroxyisolvaleric acidemia
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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