UCD Management
TREATMENT / MANAGEMENT INFORMATION
Please contact NUCDF for individualized information and support
- Preventing Catabolism by Debra Geary Hook, MPH, RD
- Urea Cycle Disorders Overview. Ah Mew N, Simpson KL, Gropman AL, et al. Urea Cycle Disorders Overview. 2003 Apr 29 [Updated 2017 Jun 22]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
- Citrin Foundation website / info@citrinfoundation.org
New England Consortium of Metabolic Programs Acute Illness Guidelines for Health Professionals
- Emergency Treatment of Neonatal Onset Urea Cycle Disorder
- Acute Illness Guidelines OTC Deficiency
- Acute Illness Guidelines CPS1 Deficiency
- Acute Illness Guidelines Argininosuccinic Acid Synthetase Deficiency (Citrullinemia)
- Acute Illness Guidelines Argininosuccinic Acid Lyase Deficiency (ASA/ASL)
- Acute Illness Guidelines Arginase Deficiency
- Acute Illness Guidelines OTC Deficiency Emergency Treatment of Neonatal Onset Urea Cycle Disorder
- Liver Transplant for UCD in pediatric patients
- Pediatric Organ Transplantation for UCD and Organic Acidemias
LABORATORY/GENETIC TESTING
Ravicti or Buphenyl (sodium phenylbutyrate) assay/blood level - an assay to measure levels of phenylacetate/phenylacetylglutamine in patients undergoing Ravicti or Buphenyl drug therapy. This blood test measures these analytes of the drugs, which is useful in determining whether the drugs are being properly metabolized by the body. This information can ultimately assist the patient’s metabolic physician in determining optimal dosing of Ravicti or Buphenyl and avoid the possibility of underdosing/overdosing, either of which could result in metabolic instability and hyperammonemia.
