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hyperargininemia/edema

Nuoroda įrašoma į mainų sritį
StraipsniaiKlinikiniai tyrimaiPatentai
4 rezultatus

Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.

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We describe a rare and lethal case of arginase deficiency in a 2-day-old female infant with encephalopathy and cerebral edema. The levels of glutamine and arginine but not ammonia were markedly elevated, lending support to the "glutamine hypothesis" as the mechanism of cerebral edema in urea cycle

Arginase Deficiency

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Clinical characteristics: Arginase deficiency in untreated individuals is characterized by episodic hyperammonemia of variable degree that is infrequently severe enough to be life threatening or to cause death. Most commonly, birth and early childhood are normal.

Arginase deficiency manifesting delayed clinical sequelae and induction of a kidney arginase isozyme.

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Deficiency of liver arginase (AI) is characterized clinically by hyperargininemia, progressive mental impairment, growth retardation, spasticity, and periodic episodes of hyperammonemia. The rarest of the inborn errors of urea cycle enzymes, it has been considered the least life-threatening, by

[Urea cycle disorders in adult patients].

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BACKGROUND Urea cycle disorders (UCD) usually present after 24 h to 48 h of life with failure to thrive, lethargy and coma leading to death, but milder forms may occur from infancy to adulthood. BACKGROUND Survival of children with UCD has significantly improved and the need for transitional care to
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