loading...| Preferred Name |
maple syrup urine disease |
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| Synonyms |
maple syrup urine disease, type 1A maple syrup urine disease, type 2 maple syrup urine disease, type 1B maple syrup urine disease, intermittent branched-chain Alpha-Keto acid dehydrogenase deficiency maple syrup urine disease, Intermediate maple syrup urine disease, classic Keto acid decarboxylase deficiency dihydrolipoamide dehydrogenase deficiency maple syrup urine disease, thiamine-responsive maple syrup urine disease, type IA Ketoacidaemia branched-chain ketoaciduria BCKDH deficiency maple syrup urine disease maple syrup urine disease, type II BCKD deficiency branched-chain 2-ketoacid dehydrogenase deficiency branched chain ketoaciduria maple syrup urine disease, type IB MSUD |
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| Definitions |
An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death. Editor note: genetic subtypes rolled into one OMIM entry. GARD treats as distinct |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009563 |
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| comment |
Editor note: genetic subtypes rolled into one OMIM entry. GARD treats as distinct |
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| altLabel |
maple syrup urine disease, type 1A maple syrup urine disease, type 2 maple syrup urine disease, type 1B maple syrup urine disease, intermittent branched-chain Alpha-Keto acid dehydrogenase deficiency maple syrup urine disease, Intermediate maple syrup urine disease, classic Keto acid decarboxylase deficiency dihydrolipoamide dehydrogenase deficiency maple syrup urine disease, thiamine-responsive maple syrup urine disease, type IA Ketoacidaemia branched-chain ketoaciduria BCKDH deficiency maple syrup urine disease maple syrup urine disease, type II BCKD deficiency branched-chain 2-ketoacid dehydrogenase deficiency branched chain ketoaciduria maple syrup urine disease, type IB MSUD |
|
| definition |
An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death. Editor note: genetic subtypes rolled into one OMIM entry. GARD treats as distinct |
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| has_exact_synonym |
maple syrup urine disease, type IA Ketoacidaemia branched-chain ketoaciduria BCKDH deficiency maple syrup urine disease maple syrup urine disease, type II BCKD deficiency branched-chain 2-ketoacid dehydrogenase deficiency branched chain ketoaciduria maple syrup urine disease, type IB MSUD |
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| has_narrow_synonym |
maple syrup urine disease, type 1A maple syrup urine disease, type 2 maple syrup urine disease, type 1B |
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| has_related_synonym |
maple syrup urine disease, intermittent branched-chain Alpha-Keto acid dehydrogenase deficiency maple syrup urine disease, Intermediate maple syrup urine disease, classic Keto acid decarboxylase deficiency dihydrolipoamide dehydrogenase deficiency maple syrup urine disease, thiamine-responsive |
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| IAO_0000233 | ||
| label |
maple syrup urine disease |
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| prefixIRI |
MONDO:0009563 |
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| prefLabel |
maple syrup urine disease |
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| textual definition |
An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death. |
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| subClassOf |