Disease Information for Valinemia/Hypervalinemia

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Clinical Manifestations
Signs & Symptoms
Poor weight gain/child
Awkward Uncoordinated Child
Limb Ataxia
Limb ataxia/clumsiness child
Growth/development delay
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
Associated Diseases & Rule outs
Associated Disease & Complications
Growth retardation/failure
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus 12p12
Pathophysiology/Gene locus 19q13
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Aminoacid metabolic disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
Treatment
Other Treatments
TX/Diet restriction treatment.
TX/Specific aminoacid restricted special diet
TX/Specific diet/avoidance
Definition

Valinemia; Hypervalinemia; Valine Transaminase Deficiency;

Valinemia is a very rare metabolic disorder; It is characterized by elevated levels of the amino acid valine in the blood and urine caused by a deficiency of the enzyme valine transaminase; This enzyme is needed in the breakdown (metabolism) of valine; Infants with valinemia usually have a lack of appetite, vomit frequently, and fail to thrive; Low muscle tone (hypotonia) and hyperactivity also occur; The breakdown of valine involves at least seven stages and a deficiency of the appropriate enzyme at any of these stages leads to a disorder of varying severity and rarity---------[NORD 2005]-----------

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External Links Related to Valinemia/Hypervalinemia
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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