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MSUD
MCID: MPL001
MIFTS: 66
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Maple Syrup Urine Disease (MSUD)
Categories:
Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Maple Syrup Urine Disease:
Characteristics:Orphanet epidemiological data:59
maple syrup urine disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (United States),1-9/1000000 (Italy),1-9/100000 (Tunisia),1-9/1000000 (Japan),1-9/100000 (Portugal),1-9/1000000 (Australia),1-9/1000000 (Taiwan, Province of China); Age of onset: Childhood,Infancy,Neonatal; Age of death: early childhood,infantile,late childhood;
classic maple syrup urine disease
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: any age;
thiamine-responsive maple syrup urine disease
Inheritance: Autosomal recessive; Age of onset: Infancy;
intermittent maple syrup urine disease
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
five clinical variants of msud unassociated with genotype (1) classic severe (onset of symptoms 4 to 7 days of age) (2) intermittent (3) intermediate (4) thiamine-responsive form (5) dihydrolipoyl dehydrogenase (e3)-deficient worldwide incidence of 1 in 185,000 live births in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns death in untreated children HPO:32
maple syrup urine disease:
Inheritance autosomal recessive inheritance Onset and clinical course recurrent Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Nephrological diseases Mental diseases
ICD10:
33
34
External Ids:
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UniProtKB/Swiss-Prot
:
75
Maple syrup urine disease: A metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include 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. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated.
MalaCards based summary : Maple Syrup Urine Disease, also known as bckd deficiency, is related to intermediate maple syrup urine disease and phenylketonuria, and has symptoms including seizures, ataxia and vomiting. An important gene associated with Maple Syrup Urine Disease is BCKDHB (Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Metabolism. The drug 4-phenylbutyric acid has been mentioned in the context of this disorder. Affiliated tissues include brain, liver and testes, and related phenotypes are intellectual disability and seizures Disease Ontology : 12 An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. Genetics Home Reference : 25 Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine. It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. If untreated, maple syrup urine disease can lead to seizures, coma, and death. NIH Rare Diseases : 53 Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. Beginning in early infancy, this condition is characterized by poor feeding, vomiting, lack of energy (lethargy), seizures, and developmental delay. The urine of affected infants has a distinctive sweet odor, much like burned caramel, that gives the condition its name. Maple syrup urine disease can be life-threatening if untreated. OMIM : 57 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). (248600) Wikipedia : 76 Maple syrup urine disease (MSUD) is an autosomal recessivemetabolic disorder affecting branched-chain... more...
GeneReviews:
NBK1319
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:248600Human phenotypes related to Maple Syrup Urine Disease:59 32 (show all 25)
UMLS symptoms related to Maple Syrup Urine Disease:seizures, ataxia, vomiting, lethargy, headache, cyanosis, dyspnea on exertion GenomeRNAi Phenotypes related to Maple Syrup Urine Disease according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Maple Syrup Urine Disease:46
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Drugs for Maple Syrup Urine Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Cochrane evidence based reviews: maple syrup urine disease |
MalaCards organs/tissues related to Maple Syrup Urine Disease:41
Brain,
Liver,
Testes,
Cortex,
Skin,
Cerebellum,
Whole Blood
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Articles related to Maple Syrup Urine Disease:(show top 50) (show all 597)
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Genes related to Maple Syrup Urine Disease (3 elite genes):(show all 18) - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Maple Syrup Urine Disease:75 (show all 19)
ClinVar genetic disease variations for Maple Syrup Urine Disease:6 (show top 50) (show all 941)
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Search
GEO
for disease gene expression data for Maple Syrup Urine Disease.
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Pathways related to Maple Syrup Urine Disease according to KEGG:37
Pathways related to Maple Syrup Urine Disease according to GeneCards Suite gene sharing:(show all 14)
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Cellular components related to Maple Syrup Urine Disease according to GeneCards Suite gene sharing:
Biological processes related to Maple Syrup Urine Disease according to GeneCards Suite gene sharing:(show all 11)
Molecular functions related to Maple Syrup Urine Disease according to GeneCards Suite gene sharing:
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