Disease Information for Ornithinemia

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Clinical Manifestations
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
Newborn screening tests abnormal (extended)
Abnormal Lab Findings - Increased
Ornithine level (Lab)
Diagnostic Test Results
Other Tests & Procedures
Amniocentesis/Prenatal enzyme assay/abnormal
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus 13q14
Pathophysiology/Gene locus Chromosome 13
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Aminoacid metabolic disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
Treatment
Other Treatments
TX/Specific diet/avoidance
Definition

Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood.

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External Links Related to Ornithinemia
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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