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Disease Information for Hyperammonemia/Ornithemia/Homocitrullinuris/HHH
- Clinical Manifestations
- Signs & Symptoms
- Infants Sicken on Feeding
- Intellectual Decline Children
- Typical Clinical Presentation
- Presentation/Hyperammonemia infant Resp alkalosis
- Laboratory Tests
- Abnormal Lab Findings (Non Measured)
- Neonatal metabolic screening (mass spec) abnormal
- Newborn screening tests abnormal (extended)
- Abnormal Lab Findings - Increased
- Ammonia blood (Lab)
- URINE Ammonia
- Diagnostic Test Results
- Pathology
- BX/Liver biopsy Enzyme assay abnormal
- BX/Liver biopsy/Abnormal
- Associated Diseases & Rule outs
- Associated Disease & Complications
- Hyperammonemia
- Urea cycle/metabolic disorder
- Disease Synergy - Causes
- Synergy/Diet excess beef/lamb/dairy products
- Synergy/High Protein diet/intake
- Synergy/Specific Diet Items
- Disease Mechanism & Classification
- Class
- CLASS/Pediatric disorders (ex)
- Pathophysiology
- Pathophysiology/Gene locus 13q14
- Pathophysiology/Urea cycle metabolic defect
- Process
- PROCESS/Metabolic/storage disorder (category)
- Synonyms
- Synonym
- Hyperammonemia Ornithemia Homocitrullinuris HHH, Synonym/HHH Enzyme/Metabolic disorder
- Treatment
- Drug Therapy - Indication
- RX/Arginine supplement
- Other Treatments
- TX/Hemodialysis.
- Definition
-
rare metabolic syndrome hyperammonemia, hyperornithemia,homocitrulluria syndrome with overlaps known as HHH often silent on newborn screening the first week of age then positive
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- External Links Related to Hyperammonemia/Ornithemia/Homocitrullinuris/HHH
- 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)