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hyperargininémia
Č. záznamu d020162 Dátum 06.06.2025 Typ M Tematický termín hyperargininémia Iný termín Angličtina (Pseudonym) ARG1 Deficiency
Angličtina (Pseudonym) Arginase Deficiency
Angličtina (Pseudonym) Arginase Deficiency Disease
Angličtina (Pseudonym) Argininemia
Slovenčina (Pseudonym) deficit ARG1
Slovenčina (Pseudonym) deficit arginázy
Slovenčina (Pseudonym) argininémia
Slovenčina (Pseudonym) choroba z deficitu arginázy
Pozri tiež (Novšie záhlavie) argináza
(Skutočné meno) argináza
MDT C10.228.140.163.100.937.500C16.320.565.100.940.500C16.320.565.189.937.500C18.452.132.100.937.437C18.452.648.100.940.437C18.452.648.189.937.437 Poznámka 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) 
predmetové heslo
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