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hyperargininémia

Subject h.	hyperargininémia
Subject h.	Hyperargininemia
Entry terms	deficit ARG1 deficit arginázy argininémia choroba z deficitu arginázy
English X references	ARG1 Deficiency Arginase Deficiency Arginase Deficiency Disease Argininemia
Scope note in English	A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)
See also reference (FX) in Slovak	argináza
See also reference (FX) in English	Arginase
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	(1) - MeSH descriptor

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