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87 results

  1. Hereditary Fructose Intolerance - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK333439
    ... ARG1 ASL ASS1 CPS1 NAGS OTC SLC25A13 SLC25A15 Urea cycle disorders XL AR ATP7B Wilson disease AR BCKDHA BCKDHB ... In addition to HFI, gastroesophageal reflux, pyloric stenosis, urea cycle disorders , or galactose epimerase deficiency should be considered in ...
  2. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1424
    ... of fatty acid beta-oxidation, defects in ketogenesis, urea cycle disorders , organic acidurias, respiratory chain defects, and inborn errors ... ARG1 ASL ASS1 CPS1 NAGS OTC SLC25A13 SLC25A15 Urea cycle disorders (NAGS, CPS1, OTC , ASS1 , ASL , ARG1 , ORNT1 , & citrin ...
  3. Carnitine Palmitoyltransferase 1A Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1527
    ... ARG1 ASL ASS1 CPS1 NAGS OTC SLC25A13 SLC25A15 Urea cycle disorders AR XL 2 CPT2 Carnitine palmitoyltransferase II deficiency ... an X-linked manner. The rest of the urea cycle disorders (deficiencies of NAGS, CPS1, ASS1, ASL, ARG1, ORNT1, ...
  4. xmlmplus_topics_2025-08-13.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-08-13.xml
    ... site ><information-category >Specifics</information-category><organization >National Urea Cycle Disorders Foundation</organization><standard-description >Video</standard-description></site>< ...
  5. Glutaric Acidemia Type 1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546575
    ... C. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab ... A. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit ...
  6. PMM2-CDG - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1110
    ... abnormal very long chain fatty acids. >20 genes Urea cycle disorders / organic acidemias (See Propionic Acidemia , Glutaric Acidemia Type ... Pyrroline-5-carboxylate synthetase deficiency: an emergent multifaceted urea cycle-related disorder. J Inherit Metab Dis. 2020; 43 :657–70. [ ...
  7. Supporting rare disease research at NIH | NIH MedlinePlus Magazine 
    https://magazine.medlineplus.gov/...ing-rare-disease-research-at-nih
    ... Rare Diseases Rare Diseases Clinical Research Network National Urea Cycle Disorders Foundation What’s Cooking? Find tasty and heart-healthy ...
  8. NGLY1-Related Congenital Disorder of Deglycosylation - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK481554
    ... syndrome (see MECP2 Disorders ), Smith-Lemli-Opitz syndrome , urea cycle disorders [ Molero-Luis et al 2013 , Ng et al ...
  9. Multiple Acyl-CoA Dehydrogenase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK558236
    ... I AR CPS1 Carbamoylphosphate synthetase I deficiency (See Urea Cycle Disorders Overview .) AR CPT1A Carnitine palmitoyltransferase 1A deficiency AR ...
  10. Maple Syrup Urine Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1319
    ... ketothiolase deficiency [OMIM 203750 ]) Urea cycle defects (See Urea Cycle Disorders Overview .) Glycine encephalopathy (nonketotic hyperglycinemia) Propionic acidemia or ...
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