loading...| Preferred Name |
Maple Syrup Urine Disease |
|
| Synonyms |
Maple Syrup Urine Disease, Thiamine Responsive Ketoacidurias, Branched-Chain Classic Maple Syrup Urine Disease Ketoaciduria, Branched-Chain Intermediate Maple Syrup Urine Disease Keto Acid Decarboxylase Deficiency Classical Maple Syrup Urine Disease Branched Chain Ketoaciduria Branched-Chain Ketoaciduria Branched Chain alpha Keto Acid Dehydrogenase Deficiency Maple Syrup Urine Disease, Intermittent Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency Intermittent Maple Syrup Urine Disease Maple Syrup Urine Disease, Thiamine-Responsive Thiamine Responsive Maple Syrup Urine Disease MSUD (Maple Syrup Urine Disease) Maple Syrup Urine Disease, Classical Maple Syrup Urine Disease, Intermediate BCKD Deficiency Branched-Chain Ketoacidurias Maple Syrup Urine Disease, Classic |
|
| Definitions |
An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D008375 |
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| altLabel |
Maple Syrup Urine Disease, Thiamine Responsive Ketoacidurias, Branched-Chain Classic Maple Syrup Urine Disease Ketoaciduria, Branched-Chain Intermediate Maple Syrup Urine Disease Keto Acid Decarboxylase Deficiency Classical Maple Syrup Urine Disease Branched Chain Ketoaciduria Branched-Chain Ketoaciduria Branched Chain alpha Keto Acid Dehydrogenase Deficiency Maple Syrup Urine Disease, Intermittent Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency Intermittent Maple Syrup Urine Disease Maple Syrup Urine Disease, Thiamine-Responsive Thiamine Responsive Maple Syrup Urine Disease MSUD (Maple Syrup Urine Disease) Maple Syrup Urine Disease, Classical Maple Syrup Urine Disease, Intermediate BCKD Deficiency Branched-Chain Ketoacidurias Maple Syrup Urine Disease, Classic |
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| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0268568 C0024776 C0751285 C0268569 C1621920 |
|
| DC |
1 |
|
| definition |
An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936) |
|
| DX |
19660101 |
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| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
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| Inverse of RO | ||
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C535711 http://purl.bioontology.org/ontology/MESH/C535710 http://purl.bioontology.org/ontology/MESH/C535712 |
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| MDA |
19990101 |
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| MMR |
20130708 |
|
| MN |
C18.452.648.189.520 C18.452.132.100.520 C10.228.140.163.100.520 C16.320.565.189.520 C16.320.565.100.608 C18.452.648.100.608 |
|
| notation |
D008375 |
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| prefLabel |
Maple Syrup Urine Disease |
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| TERMUI |
T024908 T369324 T369331 T767831 T369333 T369323 T369327 T369326 T369330 T369325 T844087 T369332 T767832 T812430 T369329 T369328 T024907 |
|
| TH |
OMIM (2013) NLM (2000) NLM (1966) UNK (19XX) GHR (2014) NLM (2014) NLM (2011) ORD (2010) |
|
| tui |
T047 |
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| subClassOf |