Disease Information for Prolinemia/type I

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Clinical Manifestations
Signs & Symptoms
Asymptomatic patient
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 - Increased
Proline levels (Lab)
Associated Diseases & Rule outs
Associated Disease & Complications
Deafness
Deafness, congenital
Deafness, sensorineural
Nephritis, hereditary
Prolinemia/type I
Disease Mechanism & Classification
Class
CLASS/Benign/Constitutional/essential disorder
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus 22q11.2
Pathophysiology/Gene locus Chromosome 22q
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/Low protein diet
Definition
Be the first to add a definition for Prolinemia/type I
External Links Related to Prolinemia/type I
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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