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750 results
  1. Ornithine translocase deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/.../ornithine-translocase-deficiency
    ... V, Dionisi-Vici C. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 2012 May 29;7: ... M, Dionisi-Vici C. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. J Inherit Metab Dis. 2019 Nov; ...
  2. PMM2-CDG (CDG-Ia) - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1110
    ... disorders, Zellweger syndrome spectrum Urea cycle defects (see Urea Cycle Disorders Overview ) Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  3. What is it like to research a rare disease? | NIH MedlinePlus Magazine 
    https://magazine.medlineplus.gov/...-like-to-research-a-rare-disease
    ... many individuals remain undiagnosed or have very mild symptoms, especially adults. What kind of research does the Urea Cycle Rare Diseases Consortium work on? "Patients actually provide a lot ...
  4. Ammonia Levels: MedlinePlus Medical Test 
    https://medlineplus.gov/lab-tests/ammonia-levels
    ... If you have a family history of genetic urea cycle disorders, you or your child may need this test even if you don't have symptoms. If you've been diagnosed with high ammonia ...
  5. Citrin Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1181
    ... recurring episodes of hyperammonemia and neurologic and psychotic symptoms that closely resemble those of hepatic encephalopathy or genetic urea cycle disorders, including nocturnal delirium, aberrant behaviors (aggression, irritability, and ...
  6. Familial Hyperinsulinism - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1375
    ... XL Fasting hypoketotic hypoglycemia Myopathy &/or cardiomyopathy Acute symptoms precipitated by fasting or acute illness Acylcarnitine profile on tandem mass spectrometry may be diagnostic. Urea cycle disorders Many AR XL Hyperammonemia Absence of hyperinsulinism AD = ...
  7. Lysinuric Protein Intolerance - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1361
    ... metabolic diseases, notably the urea cycle disorders (see Urea Cycle ... occurrence of gastrointestinal symptoms (e.g., vomiting, diarrhea) as well as of ...
  8. Hereditary urea cycle abnormality 
    https://medlineplus.gov/ency/article/000372.htm
    ... enough for growth, but not enough to cause symptoms. It is very important for people with these disorders to avoid fasting. People with urea cycle abnormalities must also be very careful under times ...
  9. Carbamoyl phosphate synthetase I deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/...rbamoyl-phosphate-synthetase-i-deficiency
    ... I. Clinical manifestations of inborn errors of the urea cycle and related ... diagnosis of carbamoyl phosphate synthetase I deficiency by identification ...
  10. Episodic Ataxia Type 2 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1501
    ... variant in PDHA1 in a female. See Mitochondrial Diseases Overview . ... in males can confirm the diagnosis. A heterozygous pathogenic variant in OTC in a ...
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