Maple syrup urine disease, type ia

Preferred Label : Maple syrup urine disease, type ia;

Symbol : MSUD1A;

CISMeF acronym : MSUD; MSUD1A; MSUD1B; MSUD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Branched-chain ketoaciduria; Branched-chain alpha-keto acid dehydrogenase deficiency; Bckd deficiency; Keto acid decarboxylase deficiency; MSUD; Maple syrup urine disease;

Description : The major clinical features of maple syrup urine disease are mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine, resulting from a block in oxidative decarboxylation. There are 5 clinical subtypes of MSUD: the 'classic' neonatal severe form, an 'intermediate' form, an 'intermittent' form, a 'thiamine-responsive' form, and an 'E3-deficient with lactic acidosis' form (246900). All of these subtypes can be caused by mutations in any of the 4 genes mentioned above, except for the E3-deficient form, which is caused only by mutation in the E3 gene (Chuang and Shih, 2001).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the branched chain keto acid dehydrogenase E1, alpha polypeptide gene (BCKDHA, 608348.0001); Caused by mutation in the dihydrolipoamide dehydrogenase gene (DLD, 238331.0001); Caused by mutation in the branched chain keto acid dehydrogenase E1, beta polypeptide gene (BCKDHB, 248611.0001); Caused by mutation in the dihydrolipoamide branched chain transacylase gene (DBT, 248610.0001);

Laboratory abnormalities : Elevated plasma branched chain amino acids (leucine, isoleucine, valine); Maple syrup urine odor; Branched chain ketoaciduria (alpha-keto isocaproate, alpha-keto-beta methylisovalerate, alpha-keto isovalerate); Elevated plasma alloisoleucine; Positive urine DNPH screening test;

Prefixed ID : #248600;

Details

Origin ID

248600;

UMLS CUI

C1855369;

Automatic exact mappings (from CISMeF team)
- Classical maple syrup urine disease (disorder) [SNOMED CT concept]
- branched chain keto acid dehydrogenase E1 subunit alpha [ORDO Gene]
- branched chain keto acid dehydrogenase E1 subunit alpha [HGNC gene]
- branched chain keto acid dehydrogenase E1 subunit beta [ORDO Gene]
- branched chain keto acid dehydrogenase E1 subunit beta [HGNC gene]
- classic maple syrup urine disease [MeSH concept]
- classical maple syrup urine disease [SNOMED Notion]
- genetic brain disorders [MedlinePlus Topic]
- lactic acidosis, congenital infantile, due to LAD deficiency [MeSH Supplementary Concept]
- maple syrup urine disease, type 1A [MeSH Supplementary Concept]
- maple syrup urine disease, type 1B [MeSH Supplementary Concept]
- maple syrup urine disease, type 2 [MeSH Supplementary Concept]
- maple syrup urine disease, type IA [MeSH concept]
Currated CISMeF NLP mapping
- Intermediate maple syrup urine disease (disorder) [SNOMED CT concept]
- Intermittent maple syrup urine disease (disorder) [SNOMED CT concept]
- Maple Syrup Urine Disease [NCIt concept]
- Maple syrup disease [MedDRA Preferred Term]
- Maple syrup urine disease [LOINC component]
- Maple syrup urine disease [ORDO Disease]
- Maple syrup urine disease [MedDRA LLT]
- Maple syrup urine disease [ACR pathology]
- Maple syrup urine disease (disorder) [SNOMED CT concept]
- Maple-syrup-urine disease [ICD-10 Sub-category]
- Maple-syrup-urine disease [ICD-11 Sub-sub category]
- Maple-syrup-urine disease [ICD-10 Sub-category (who)]
- intermediate maple syrup urine disease [MeSH concept]
- intermittent maple syrup urine disease [SNOMED Notion]
- intermittent maple syrup urine disease [MeSH concept]
- ketosis [MeSH Descriptor]
- leucinosis [Artificial nutrition thesaurus concept]
- maple syrup urine disease [DO Concept]
- maple syrup urine disease [MeSH Descriptor]
- maple syrup urine disease [MeSH concept]
- maple syrup urine disease, nos [SNOMED Notion]
- maple syrup urine disorder [Disease (Nov.)]
DO Cross reference
- maple syrup urine disease [DO Concept]
Genes related to phenotype
- Branched-chain keto acid dehydrogenase e1, alpha polypeptide [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral edema [HPO term]
- Coma [HPO term]
- Elevated circulating L-alloisoleucine concentration [HPO term]
- Elevated plasma branched chain amino acids [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Growth abnormality [HPO term]
- Hallucinations [HPO term]
- Hypertonia [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Increased level of hippuric acid in urine [HPO term]
- Intellectual disability [HPO term]
- Ketosis [HPO term]
- Lactic acidosis [HPO term]
- Lethargy [HPO term]
- Pancreatitis [HPO term]
- Recurrent [HPO term]
- Seizure [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Classic maple syrup urine disease [ORDO Disease]
- Intermediate maple syrup urine disease [ORDO Disease]
- Intermittent maple syrup urine disease [ORDO Disease]
- Maple syrup urine disease [ORDO Disease]
- Thiamine-responsive maple syrup urine disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Maple Syrup Urine Disease [NCIt concept]
- Maple syrup disease [MedDRA Preferred Term]
- Maple syrup urine disease [LOINC component]
- Maple syrup urine disease [ORDO Disease]
- Maple syrup urine disease [MedDRA LLT]
- Maple syrup urine disease [ACR pathology]
- Maple syrup urine disease (disorder) [SNOMED CT concept]
- Maple-syrup-urine disease [ICD-10 Sub-category (who)]
- Maple-syrup-urine disease [ICD-10 Sub-category]
- Maple-syrup-urine disease [ICD-11 Sub-sub category]
- maple syrup urine disease [MeSH Descriptor]
- maple syrup urine disease [MeSH concept]
- maple syrup urine disease [DO Concept]
- maple syrup urine disease, nos [SNOMED Notion]
- maple syrup urine disease, type IA [MeSH concept]
Validated automatic mappings to BTNT
- Classic maple syrup urine disease [ORDO Disease]
- Intermediate maple syrup urine disease [ORDO Disease]
- Intermittent maple syrup urine disease [ORDO Disease]
- Thiamine-responsive maple syrup urine disease [ORDO Disease]

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