Disorders leading to an impairment of the urea cycle and hyperammonemia

Research output: Contribution to journalArticle

Abstract

Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affecting the catalysis of the Krebs-Henseleit cycle (five core enzymes, one activating enzyme and two transporters). The hallmark of urea cycle (UC) dysfunction is hyperammonemia, due to the impossibility of detoxifing ammonia derived from dietary protein intake, muscle catabolism or bacterial production within the intestine. Beside primary defects of one of the enzymes or transporters, other genetic or acquired conditions can secondary affect, by different mechanisms, UC function, hereby leading to hyperammonemia. Aim of this paper is to review the most important genetic conditions responsible of UC function impairment, to highlight the connection with UC enzymes and to provide the clue for differential diagnosis.

Original languageEnglish
Pages (from-to)45-55
Number of pages11
JournalJournal of Pediatric Biochemistry
Volume4
Issue number1
DOIs
Publication statusPublished - 2014

Fingerprint

Hyperammonemia
Urea
Enzymes
Ammonia
Inborn Urea Cycle Disorder
Citric Acid Cycle
Dietary Proteins
Catalysis
Detoxification
Defects
Intestines
Arginine
Differential Diagnosis
Muscle
Muscles

Keywords

  • hyperammonemia
  • secondary hyperammonemia
  • UCD
  • urea cycle

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Biochemistry, medical

Cite this

Disorders leading to an impairment of the urea cycle and hyperammonemia. / Martinelli, Diego.

In: Journal of Pediatric Biochemistry, Vol. 4, No. 1, 2014, p. 45-55.

Research output: Contribution to journalArticle

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