Details of DBT gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| DBT | BCATE2 | P11182 | ODB2_HUMAN | 1629
| ENSG00000137992
| Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Maple syrup urine disease 2 (MSUD2) [MIM:248600]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. |
248600 |
Phenotypes
Abdominal symptom, Abnormal glucose homeostasis, Abnormality of acid-base homeostasis, Abnormality of amino acid metabolism, Abnormality of blood glucose concentration, Abnormality of branched chain family amino acid metabolism, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of carboxylic acid metabolism, Abnormality of central motor function, Abnormality of coordination, Abnormality of fluid regulation, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of muscle physiology, Abnormality of pancreas physiology, Abnormality of pyramidal motor function, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebrum, Abnormality of the forebrain, Abnormality of the hindbrain, Abnormality of the metencephalon, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the pancreas, Abnormal muscle tone, Acidosis, All, Ataxia, Autosomal recessive inheritance, Behavioural/Psychiatric Abnormality, Cerebral edema, Cognitive impairment, Coma, Edema, Elevated plasma branched chain amino acids, Growth abnormality, Hallucinations, Hypertonia, Hypoglycemia, Intellectual disability, Ketosis, Lactic acidosis, Lethargy, Mode of inheritance, Morphological abnormality of the central nervous system, Muscular hypotonia, Nausea and vomiting, Pancreatitis, Phenotypic abnormality, Reduced consciousness/confusion, Seizures, Vomiting.
