Disease Information for Hyperammonemia/Ornithemia/Homocitrullinuris/HHH

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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
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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