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Regulation of Gene Expression Ontolology
Last uploaded:
December 16, 2015
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| Preferred Name | Biotinidase deficiency | |
| Synonyms |
BTD deficiency |
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| Definitions |
(BTD deficiency) - A juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. Biotinidase deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur. |
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| ID |
http://identifiers.org/omim/253260 |
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| altLabel |
BTD deficiency
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| definition |
(BTD deficiency) - A juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. Biotinidase deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur.
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| id |
OMIM:253260
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| notation |
OMIM:253260
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| prefLabel |
Biotinidase deficiency
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| subClassOf |
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