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MSUD
MCID: MPL001
MIFTS: 69
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Maple Syrup Urine Disease (MSUD)
Categories:
Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Maple Syrup Urine Disease:
Characteristics:Orphanet epidemiological data:58
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 (Updated 20-May-2021)
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:31
maple syrup urine disease:
Inheritance autosomal recessive inheritance Onset and clinical course recurrent Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Nephrological diseases
ICD10:
32
33
Orphanet: 58
Inborn errors of metabolism External Ids:
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UniProtKB/Swiss-Prot :
72
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.
Maple syrup urine disease 1A: 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. Maple syrup urine disease 1B: 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. Maple syrup urine disease 2: 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 amino acid metabolic disorder, and has symptoms including seizures, ataxia and vomiting. An important gene associated with Maple Syrup Urine Disease is BCKDHA (Branched Chain Keto Acid Dehydrogenase E1 Subunit Alpha), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Metabolism. The drugs 4-phenylbutyric acid and carbamide peroxide have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and cortex, and related phenotypes are intellectual disability and respiratory insufficiency 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. MedlinePlus Genetics : 43 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.Maple syrup urine 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 lead to delayed development and other health problems if not treated. GARD : 20 Maple syrup urine disease (MSUD) occurs when the body is unable to breakdown certain parts of proteins. This leads to the build-up of toxic substances that can cause organ and brain damage. There are several forms of MSUD. The most common is the classic or infantile form. Symptoms of the classic form of MSUD start in early infancy and include poor feeding, irritability, extra sleepiness, and muscle spasms. If untreated, respiratory failure (lack of oxygen getting to the blood) may occur. The earwax and urine of infants with MSUD smells like maple syrup. The symptoms of other forms of MSUD start in adolescence or adulthood. MSUD is caused by genetic variants in the BCKDHA, BCKDHB, or DBT genes. It is inherited in an autosomal recessive pattern. Diagnosis of MSUD is based on the symptoms, clinical exam, and blood and urine testing. MSUD is often diagnosed based on the results of a newborn screening test. Treatment includes a special protein restricted diet, supplements, and liver transplantation in some cases. 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) (Updated 20-May-2021) KEGG : 36 Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder caused by a defect in the oxidative decarboxylation of branched-chain amino acids (BCAA) leading to mental and physical retardation, feeding problems, and a maple syrup odor to the urine. Currently, there are effective therapies that are in use for MSUD; the dietary therapy and thiamin supplementation. The dietary therapy, which involves feeding patients with a synthetic diet containing reduced BCAA contents. Wikipedia : 73 Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain... more...
GeneReviews:
NBK1319
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Human phenotypes related to Maple Syrup Urine Disease:58 31 (show all 28)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:248600 (Updated 20-May-2021)UMLS symptoms related to Maple Syrup Urine Disease:seizures; ataxia; vomiting; headache; lethargy; 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):(show all 14)
Interventional clinical trials:(show all 11)
Cochrane evidence based reviews: maple syrup urine disease |
MalaCards organs/tissues related to Maple Syrup Urine Disease:40
Brain,
Liver,
Cortex,
Whole Blood,
Skin,
Cerebellum,
Spinal Cord
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Articles related to Maple Syrup Urine Disease:(show top 50) (show all 1200)
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Genes related to Maple Syrup Urine Disease (4 elite genes):(show all 46) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Maple Syrup Urine Disease:6 (show top 50) (show all 829)
UniProtKB/Swiss-Prot genetic disease variations for Maple Syrup Urine Disease:72 (show all 19)
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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:36
Pathways related to Maple Syrup Urine Disease according to GeneCards Suite gene sharing:(show all 15)
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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:
Molecular functions related to Maple Syrup Urine Disease according to GeneCards Suite gene sharing:
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