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  1. Propionic Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK92946
    ... L [ Kölker et al 2015a ]. In contrast to urea cycle disorders, hyperammonemia in PA is usually accompanied by low ... ARG1 ASL ASS1 CPS1 NAGS OTC SLC25A13 SLC25A15 Urea cycle disorders AR XL 5 Hyperammonemia in neonatal PA can ...
  2. Citrin Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1181
    ... that closely resemble those of hepatic encephalopathy or urea cycle disorders. Onset is typically sudden and usually between ages ... intolerance (see Table 4 ). Hyperammonemia also occurs in urea cycle disorders, which result from defects in the metabolism of ...
  3. Classic Isovaleric Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK601614
    ... 1, 4 CPS1 Carbamoylphosphate synthetase I deficiency (See Urea Cycle Disorders Overview .) AR Hyperammonemia Low citrulline in plasma Normal/ ... 1, 4 NAGS N-acetylglutamate synthase deficiency (See Urea Cycle Disorders Overview .) AR Hyperammonemia Low citrulline in plasma Normal/ ...
  4. Hereditary urea cycle abnormality 
    https://medlineplus.gov/ency/article/000372.htm
    ... with this waste-removal process. People with a urea cycle disorder have a defective gene that makes the enzymes ... drinks, and get enough fluids. Most people with urea cycle disorders will need to stay in the hospital at ...
  5. Carbonic Anhydrase VA Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK284774
    ... metabolic hyperammonemic encephalopathy (like that observed in the urea cycle disorders ) with lethargy, feeding intolerance, weight loss, tachypnea, seizures, ...
  6. Isolated Methylmalonic Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1231
    ... P. 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 ...
  7. SLC39A8-CDG - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK590152
    ... CDG do not have abnormal VLCFAs. >20 genes Urea cycle disorders / organic acidemias (See Propionic Acidemia , Glutaric Acidemia Type ... Feeding intolerance DD/ID Spasticity Unlike persons w/urea cycle disorders / organic acidemias, persons w/SLC39A8-CDG do not ...
  8. Metabolic Disorders 
    https://medlineplus.gov/metabolicdisorders.html
    ... Genetic and Rare Diseases Information Center) Overview of Urea Cycle Disorders (National Urea Cycle Disorders Foundation) Genetics Acatalasemia: MedlinePlus ...
  9. Genetic Brain Disorders | MedlinePlus 
    https://medlineplus.gov/geneticbraindisorders.html
    ... Institute of Neurological Disorders and Stroke) Overview of Urea Cycle Disorders (National Urea Cycle Disorders Foundation) Genetics 2-hydroxyglutaric ...
  10. Patient support and advocacy groups 
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups
    ... Alliance National Tay Sachs and Allied Disorders National Urea Cycle Disorders Foundation NBIA Disorders Association Nemaline Myopathy Support Group ... Foundation United Mitochondrial Disease Foundation United MSD Foundation Urea ... Disorder Consortium Usher 1F Collaborative Usher III Initiative Usher ...
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