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83 results
  1. 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 ...
  2. PMM2-CDG - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1110
    ... Pyrroline-5-carboxylate synthetase deficiency: an emergent multifaceted urea cycle-related disorder. J Inherit Metab Dis. 2020; 43 :657–70. [ PubMed : 32017139 ] Marklová E, Albahri Z. Screening and diagnosis of congenital disorders of glycosylation. Clin Chim Acta. ...
  3. 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 ...
  4. Carnitine Palmitoyltransferase 1A Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1527
    ... Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency .) Urea cycle ... Following Initial Diagnosis To establish the extent of disease and needs ...
  5. 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 ... organ systems. Metabolic decompensations. Individuals affected ...
  6. 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 ...
  7. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1424
    ... liver) need to be considered in the differential diagnosis of medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency, including other disorders of fatty acid beta-oxidation, defects in ketogenesis, urea cycle disorders , organic acidurias, respiratory chain defects, and inborn ...
  8. Chronic Granulomatous Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK99496
    ... associated with ornithine transcarbamylase deficiency (OTC) leading to urea cycle ... granulomatous disease (CGD) mainly involves disorders with recurrent or unusual ...
  9. Maple Syrup Urine Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1319
    ... pathogenic variants in BCKDHA , BCKDHB , or DBT . Differential Diagnosis Entities ... (nonketotic hyperglycinemia) Propionic acidemia or ...
  10. Hepatic Veno-Occlusive Disease with Immunodeficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1271
    ... HIV should also be considered in the differential diagnosis for the immune ... Cycle Disorders Overview ), factor V Leiden (FVL), HFE (see HFE - ...
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