Encephalopathy due to hydroxykynureninuria (Q89412): Difference between revisions
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A encefalopatia devida a hidroxiquinureninúria é caracterizada por retardo psicomotor e encefalopatia não progressiva associada à excreção urinária de grandes quantidades de quinurenina, 3-hidroxiquinurenina e ácido xanturênico. Foi descrito em menos de 30 pacientes. Outras manifestações podem incluir hipertonia muscular, dores de cabeça e gestos estereotipados. Esta doença é transmitida de forma autossômica recessiva. É causada por um defeito na quinureninase, uma enzima da via catabólica do triptofano. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1145853843 / rank | |||||||||||||||
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CID11:ID_1145853843 | |||||||||||||||
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dki-india-ID_1145853843 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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Latest revision as of 16:06, 15 August 2026
Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.
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| default for all languages | ID_1145853843 |
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| English | Encephalopathy due to hydroxykynureninuria |
Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway. |
Statements
CID11:ID_1145853843
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dki-india-ID_1145853843
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Concluído
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13 August 2026
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