| Descriptor English: | Maple Syrup Urine Disease | ||||||
| Descriptor Spanish: |
Enfermedad de la Orina de Jarabe de Arce
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| Descriptor Portuguese: | Doença da Urina de Xarope de Bordo | ||||||
| Descriptor French: | Leucinose | ||||||
| Entry term(s): |
BCKD Deficiency Branched Chain Ketoaciduria Branched Chain alpha Keto Acid Dehydrogenase Deficiency Branched-Chain Ketoaciduria Branched-Chain Ketoacidurias Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency Classic Maple Syrup Urine Disease Classical Maple Syrup Urine Disease Intermediate Maple Syrup Urine Disease Intermittent Maple Syrup Urine Disease Keto Acid Decarboxylase Deficiency Ketoaciduria, Branched-Chain Ketoacidurias, Branched-Chain MSUD (Maple Syrup Urine Disease) Maple Syrup Urine Disease, Classic Maple Syrup Urine Disease, Classical Maple Syrup Urine Disease, Intermediate Maple Syrup Urine Disease, Intermittent Maple Syrup Urine Disease, Thiamine Responsive Maple Syrup Urine Disease, Thiamine-Responsive Thiamine Responsive Maple Syrup Urine Disease |
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| Tree number(s): |
C10.228.140.163.100.520 C16.320.565.100.608 C16.320.565.189.520 C18.452.132.100.520 C18.452.648.100.608 C18.452.648.189.520 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D008375 | ||||||
| Scope note: | 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) |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Entry Version: | MAPLE SYRUP URINE DIS |
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| DeCS ID: | 8547 | ||||||
| Unique ID: | D008375 | ||||||
| NLM Classification: | WD 205.5.A5 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1966/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2013/07/08 |
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Maple Syrup Urine Disease
- Preferred
Intermediate Maple Syrup Urine Disease
- Narrower
Maple Syrup Urine Disease, Thiamine Responsive
- Narrower
Classic Maple Syrup Urine Disease
- Narrower
Intermittent Maple Syrup Urine Disease
- Narrower
| Concept UI |
M0013019 |
| Scope note | 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) |
| Preferred term | Maple Syrup Urine Disease |
| Entry term(s) |
BCKD Deficiency Branched Chain Ketoaciduria Branched Chain alpha Keto Acid Dehydrogenase Deficiency Branched-Chain Ketoaciduria Branched-Chain Ketoacidurias Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency Keto Acid Decarboxylase Deficiency Ketoaciduria, Branched-Chain Ketoacidurias, Branched-Chain MSUD (Maple Syrup Urine Disease) |
| Concept UI |
M0335652 |
| Preferred term | Intermediate Maple Syrup Urine Disease |
| Entry term(s) |
Maple Syrup Urine Disease, Intermediate |
| Concept UI |
M0335654 |
| Preferred term | Maple Syrup Urine Disease, Thiamine Responsive |
| Entry term(s) |
Maple Syrup Urine Disease, Thiamine-Responsive Thiamine Responsive Maple Syrup Urine Disease |
| Concept UI |
M0335651 |
| Preferred term | Classic Maple Syrup Urine Disease |
| Entry term(s) |
Classical Maple Syrup Urine Disease Maple Syrup Urine Disease, Classic Maple Syrup Urine Disease, Classical |
| Concept UI |
M0335653 |
| Preferred term | Intermittent Maple Syrup Urine Disease |
| Entry term(s) |
Maple Syrup Urine Disease, Intermittent |
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