Ornithine transcarbamylase deficiency (OTCD): treatment
Evidence-based neurology checklist on ornithine transcarbamylase deficiency (otcd): treatment: Nutritional supplementation Calories Essential amino acids Minerals Vitamins Long-chain polyunsaturated fatty acids Treatment: sodium scavenging drugs Treatment: others Treatment of crises…
Nutritional supplementation
- Calories
- Essential amino acids
- Minerals
- Vitamins
- Long-chain polyunsaturated fatty acids
Treatment: sodium scavenging drugs
Treatment: others
Treatment of crises
Investigational treatments
References
- Lamb S, Aye CY, Murphy E, Mackillop L. Multidisciplinary management of ornithine transcarbamylase (OTC) deficiency in pregnancy: essential to prevent hyperammonemic complications. BMJ Case Rep 2013; 2013: bcr2012007416.
- Summar ML, Dobbelaere D, Brusilow S, Lee B. Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes. Acta Paediatr 2008; 97:1420-1425.
- Takanashi J, Barkovich AJ, Cheng SF, Kostiner D, Baker JC, Packman S. Brain MR imaging in acute hyperammonemic encephalopathy arising from late-onset ornithine transcarbamylase deficiency. AJNR 2003; 24:390-393.
- Feigenbaum A. Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes. Mol Genet Metab Rep 2022; 33(Suppl 1):100941.
