Argininosuccinic aciduria (Q40015): Difference between revisions
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A acidúria arginossuccínica é uma deficiência hereditária autossômica recessiv a de arginosuccinato liase, uma enzima envolvida no ciclo da ureia, que leva ao coma acompanhado de hiperamonemia grave em neonatos ou, na infância, à hipotonia, deficiência de crescimento, anorexia e vômitos crônicos ou distúrbios comportamentais. O início também pode ocorrer mais tarde com coma hiperamonêmico ou distúrbios comportamentais que simulam distúrbios psiquiátricos. | |||
| description / en | description / en | ||
Argininosuccinic aciduria is an autosomal recessive inherited deficiency of argininosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioural disorders. Onset can also occur later with hyperammonemic coma or behavioural disorders that simulate psychiatric disorders. | |||
Revision as of 05:39, 13 August 2026
Argininosuccinic aciduria is an autosomal recessive inherited deficiency of argininosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioural disorders. Onset can also occur later with hyperammonemic coma or behavioural disorders that simulate psychiatric disorders.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C50.A0 |
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| English | Argininosuccinic aciduria |
Argininosuccinic aciduria is an autosomal recessive inherited deficiency of argininosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioural disorders. Onset can also occur later with hyperammonemic coma or behavioural disorders that simulate psychiatric disorders. |
