Maple syrup urine disease
| Maple syrup urine disease | |
|---|---|
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| Isoleucine (pictured above), leucine, and valine are the branched-chain amino acids that build up in MSUD. | |
| Classification and external resources | |
| Specialty | Medical genetics |
| ICD-10 | E71.0 |
| ICD-9-CM | 270.3 |
| OMIM | 248600 |
| DiseasesDB | 7820 |
| MedlinePlus | 000373 |
| eMedicine | ped/1368 |
| Patient UK | Maple syrup urine disease |
| MeSH | D008375 |
| GeneReviews | |
| Orphanet | 511 |
Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal recessivemetabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. The condition gets its name from the distinctive sweet odor of affected infants' urine, particularly prior to diagnosis, and during times of acute illness.
The disease is named for the presence of sweet-smelling urine, an odor similar to that of maple syrup, when the person goes into metabolic crisis. The smell is also present and sometimes stronger in the ear wax of an affected individual at these times. In populations to whom maple syrup is unfamiliar, the aroma can be likened to fenugreek, and fenugreek ingestion may impart the aroma to urine.
Infants with this disease seem healthy at birth but quickly deteriorate, often with severe brain damage, which may be permanent. Death often occurs within the first five months in severe disease.
The symptoms of MSUD may also present later depending on the severity of the disease. Untreated in older individuals, and during times of metabolic crisis, symptoms of the condition include anorexia, weight loss,anemia, diarrhea, vomiting,dehydration, lethargy, oscillating hypertonia and hypotonia,ataxia,seizures,hypoglycaemia, ketoacidosis, opisthotonus, pancreatitis, rapid neurological decline, and coma. Without prompt treatment, they will likely die from cerebral edema. Additionally, maple syrup urine disease patients often experience an abnormal course of disease in simple infections that become increasingly severe and can have permanent damage. In more rare cases, concomitant osteoporosis may also appear in these patients.
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Wikipedia