| Entry |
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| Name |
Ornithine transcarbamylase deficiency |
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| Supergrp |
Primary hyperammonemia (Urea cycle disorders) [DS: H01398] |
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| Description |
Ornithine transcarbamylase deficiency, the most common urea cycle defect, results in failure to thrive, hypotonia, seizures and mental retardation.
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| Category |
Inherited metabolic disorder
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| Brite |
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H00187 Ornithine transcarbamylase deficiency
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
nt06010 Urea cycle
H00187 Ornithine transcarbamylase deficiency
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| Pathway |
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| Network |
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| Gene |
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| Drug |
Sodium phenylbutyrate [DR: D05868]
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| Other DBs |
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| Reference |
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| Authors |
Gropman AL, Summar M, Leonard JV |
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| Title |
Neurological implications of urea cycle disorders. |
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| Journal |
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| Reference |
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| Authors |
Gordon N |
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| Title |
Ornithine transcarbamylase deficiency: a urea cycle defect. |
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| Journal |
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| Reference |
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| Authors |
Butterworth RF |
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| Title |
Evidence for forebrain cholinergic neuronal loss in congenital ornithine transcarbamylase deficiency. |
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| Journal |
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| LinkDB |
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