Congenital hyperammonemia, type I

Common Name(s)

Congenital hyperammonemia, type I

Carbamoyl phosphate synthetase I deficiency is an autosomal recessive inborn error of metabolism of the urea cycle which causes hyperammonemia. There are 2 main forms: a lethal neonatal type and a less severe, delayed-onset type (summary by {14:Klaus et al., 2009}). Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency ({311250}), carbamyl phosphate synthetase deficiency, argininosuccinate synthetase deficiency, or citrullinemia ({215700}), argininosuccinate lyase deficiency ({207900}), and arginase deficiency ({207800}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital hyperammonemia, type I" for support, advocacy or research.

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
 

Status: Recruiting

Condition Summary: Propionic Acidemia (PA); Methylmalonic Acidemia (MMA); Late-onset CPS1 Deficiency (CPSD); Late-onset Ornithine Transcarbamylase Deficiency (OTCD)

 

Last Updated: 24 Nov 2014

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Arginine and CPS Polymorphisms
 

Status: Recruiting

Condition Summary: Preterm Infants

 

Last Updated: 19 Jul 2011

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Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants
 

Status: Recruiting

Condition Summary: Urea Cycle Disorders; Organic Acidemias

 

Last Updated: 29 Sep 2014

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