Urea Cycle Disorders

Overview

Journal Curr Treat Options Neurol

Specialty Neurology

Date 2003 Jun 7

PMID 12791198

Citations 9

Authors

Soledad Kleppe

Asad Mian

Brendan Lee

Affiliations

Soon will be listed here.

Abstract

Urea cycle disorders comprise a group of inborn errors of metabolism that represent unique gene-nutrient interactions whose significant morbidity arises from acute and chronic neurotoxicity associated with often massive hyperammonemia. Current paradigms of treatment are focused on controlling the flux of nitrogen transfer through the hepatic urea cycle by a combination of dietary and pharmacologic approaches. Evolving paradigms include the development of cell and gene therapies. Current research is focused on understanding the pathophysiology of ammonia-mediated toxicity and prevention of neural injury.

Citing Articles

Acute Fulminant Encephalopathy in an Adult due to Ornithine Transcarbamylase Deficiency.

Nambiar V, Shridharani A, Kannoth S, Gopinath S, Kumar A Ann Indian Acad Neurol. 2022; 25(4):722-724.

PMID: 36211161 PMC: 9540967. DOI: 10.4103/aian.aian_1028_21.

Hyperammonaemic Encephalopathy Caused by Adult-Onset Ornithine Transcarbamylase Deficiency.

Niclasen B, Schelde-Olesen M, Astvad M, Lokke A, Kroigard T, Nielsen H Brain Sci. 2022; 12(2).

PMID: 35203994 PMC: 8870301. DOI: 10.3390/brainsci12020231.

Fifteen years of urea cycle disorders brain research: Looking back, looking forward.

Sen K, Whitehead M, Castillo Pinto C, Caldovic L, Gropman A Anal Biochem. 2021; 636:114343.

PMID: 34637785 PMC: 8671367. DOI: 10.1016/j.ab.2021.114343.

Management of late onset urea cycle disorders-a remaining challenge for the intensivist?.

Redant S, Empain A, Mugisha A, Kamgang P, Attou R, Honore P Ann Intensive Care. 2021; 11(1):2.

PMID: 33409766 PMC: 7788146. DOI: 10.1186/s13613-020-00797-y.

Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency.

Koya Y, Shibata M, Senju M, Honma Y, Hiura M, Ishii M Intern Med. 2018; 58(7):937-942.

PMID: 30449781 PMC: 6478997. DOI: 10.2169/internalmedicine.1851-18.

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