Disease Information for Pyroglutamic acidemia

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Clinical Manifestations
Signs & Symptoms
Nausea
Vomiting
Vomiting in infancy
Awkward Uncoordinated Child
Limb Ataxia
Limb ataxia/clumsiness child
Clinical Presentation & Variations
Presentation/Metabolic disease silent first week Missed
Presentation/Non diabetic Ketoacidosis Kids infants
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
Filter paper spot/newborn blood test abnormal
Neonatal metabolic screening (mass spec) abnormal
Newborn screening tests abnormal (extended)
URINE 5-Oxoproline present/increased
Abnormal Lab Findings - Increased
Anion gap (Lab)
pH, arterial blood (Lab)
Diagnostic Test Results
Other Tests & Procedures
Amniocentesis/Abnormality
Amniocentesis/Prenatal enzyme assay/abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Acidosis
Acidosis, metabolic
Pyroglutamic acidemia
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hemolytic process/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)
Synonyms
Synonym
Pyroglutamic acidemia, Synonym/5-Oxoprolinuria (Pyroglutamic acidemia))
Definition

Metabolic syndrome; Glutathione synthetase defect ; hemolytic anemia and acidosis in infants; chronic acidosis in older children;urine pyroglutamate increased/identified; rare [Current Pediatric DXRX 14th 1999; Hayes and Sondheimer]-----------------------------.

Pyroglutamic Aciduria ; Pyroglutamicaciduria; 5-Oxoprolinuria; This is a biochemical finding that can arise from two underlying metabolic disorders. It is characterized by excretion of massive amounts of the chemical 5-oxoproline.. [NORD 2005]

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External Links Related to Pyroglutamic acidemia
Google
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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