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1 / 1
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DeCS
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Descriptor Inglés:
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Argininosuccinic Aciduria
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Descriptor Español:
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Aciduria Argininosuccínica
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Descriptor Portugués:
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Acidúria Argininossuccínica
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Sinónimos Inglés:
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ASA Deficiencies
ASA Deficiency
ASL Deficiencies
ASL Deficiency
Acidemia, Argininosuccinate
Acidemias, Argininosuccinate
Aciduria, Argininosuccinic
Acidurias, Argininosuccinic
Arginino Succinase Deficiencies
Arginino Succinase Deficiency
Argininosuccinase Deficiency
Argininosuccinate Acidemia
Argininosuccinate Acidemias
Argininosuccinate Lyase Deficiencies
Argininosuccinate Lyase Deficiency
Argininosuccinic Acid Lyase Deficiency
Argininosuccinic Acidemia
Argininosuccinic Acidurias
Argininosuccinicaciduria
Argininosuccinicacidurias
Argininosuccinyl-Coa Lyase Deficiency
Arginosuccinase Deficiency
Asauria
Deficiencies, ASA
Deficiencies, ASL
Deficiencies, Arginino Succinase
Deficiencies, Argininosuccinate Lyase
Deficiency, ASA
Deficiency, ASL
Deficiency, Arginino Succinase
Deficiency, Argininosuccinate Lyase
Inborn Error of Urea Synthesis, Arginino Succinic Type
Urea Cycle Disorder, Arginino Succinase Type
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Categoría:
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C10.228.140.163.100.937.124
C16.320.565.100.940.124
C16.320.565.189.937.124
C18.452.132.100.937.124
C18.452.648.100.940.124
C18.452.648.189.937.124
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Definición Inglés:
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Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder. |
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Relacionados Inglés:
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Argininosuccinate Lyase
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Nota Histórica Inglés:
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2010
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Calificadores Permitidos Inglés:
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Número del Registro:
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53508
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Identificador Único:
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D056807
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Ocurrencia en la BVS:
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Similar:
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DeCS
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