Visão selecionada em Inglês
| Descritor em português: | Hiperargininemia | ||||||
| Descritor em inglês: | Hyperargininemia | ||||||
| Descritor em espanhol: |
Hiperargininemia
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| Descritor em francês: | Hyperargininémie | ||||||
| Termo(s) alternativo(s): |
ARG1 Deficiencies ARG1 Deficiency Arginase Deficiencies Arginase Deficiency Arginase Deficiency Disease Arginase Deficiency Diseases Argininemia Deficiencies, ARG1 Deficiencies, Arginase Deficiency Disease, Arginase Deficiency Diseases, Arginase Deficiency, ARG1 Deficiency, Arginase Hyperargininemias |
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| Código(s) hierárquico(s): |
C10.228.140.163.100.937.500 C16.320.565.100.940.500 C16.320.565.189.937.500 C18.452.132.100.937.437 C18.452.648.100.940.437 C18.452.648.189.937.437 |
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| Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D020162 | ||||||
| Nota de escopo: | 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) |
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| Qualificadores permitidos: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Indexação Anterior: |
Amino Acid Metabolism, Inborn Errors (1966-1999) |
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| Nota MeSH pública: | 2000 |
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| Nota histórica: | 2000 |
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| Veja também os descritores: |
Arginase
MeSH | ||||||
| Identificador DeCS: | 34231 | ||||||
| ID do descritor: | D020162 | ||||||
| Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||||
| Data de estabelecimento: | 01/01/2000 | ||||||
| Data de entrada: | 03/11/1999 | ||||||
| Data de revisão: | 08/07/2013 |
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Hyperargininemia
- Conceito preferido
| Identificador do conceito |
M0328331 |
| Nota de escopo | 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) |
| Termo preferido | Hyperargininemia |
| Termo(s) alternativo(s) |
ARG1 Deficiencies ARG1 Deficiency Arginase Deficiencies Arginase Deficiency Arginase Deficiency Disease Arginase Deficiency Diseases Argininemia Deficiencies, ARG1 Deficiencies, Arginase Deficiency Disease, Arginase Deficiency Diseases, Arginase Deficiency, ARG1 Deficiency, Arginase Hyperargininemias |
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