| Condition:1 | Maple syrup urine disease |
|---|---|
| Category:2 | Core |
| SNOMED CT Code:3 | 27718001—Maple syrup urine disease UMLS CUI:4C0024776 |
| ICD-9-CM Code:5 | 270.3—Disturbances of branched-chain amino-acid metabolism |
| ICD-10-CM Code:6 | E71.0—Maple-syrup-urine disease |
Maple syrup urine disease (MSUD) is a rare but serious inherited condition. It means the body cannot process certain amino acids (the "building blocks" of protein), causing a harmful build-up of substances in the blood and urine. Normally, our bodies break down protein foods such as meat and fish into amino acids.
Maple syrup urine disease (MSUD) is a life-threatening metabolic disorder. Metabolic disorders are conditions in which your body can't function normally because it can't properly convert food to energy to keep your body healthy. Protein is needed by the body to function normally.
Maple Syrup Urine Disease (MUSD) and Phenylketonuria (PKU), are two metabolic disease in which the nutritional management are essential. Nevertheless, in Costa Rica and the rest of Central America, the dietetical attention of the children with this illness aren't normalized.
Furthermore, maple syrup urine disease can often present with a clinical picture exceedingly similar to that elicited by urea cycle disorders; maple syrup urine disease should, therefore, be considered a differential diagnosis in patients suspected to have an underlying urea cycle disorder.
Intermediate, intermittent, and thiamine-responsive MSUD symptoms can happen at any age. Sometimes, MSUD symptoms can show up or become worse if you are sick or under stress. Symptoms in older children or adults include: Stomach pain.
The treatment of MSUD is a low protein diet for life, in addition to a leucine, isoleucine and valine-free supplement (synthetic protein). The synthetic protein contains other amino acids, vitamins and minerals your child may need. Isoleucine and valine supplements will also be needed.
Instead, I think that it's probably a result of a high amount of protein that your boyfriend is eating. If he is taking a lot of whey protein powder, he's getting a lot of branched-chain amino acids, and they have an odor of maple syrup. But being tired all the time is certainly a symptom of diabetes.
Phenylketonuria (PKU) is a rare but potentially serious inherited disorder. Our bodies break down the protein in foods, such as meat and fish, into amino acids, which are the "building blocks" of protein. These amino acids are then used to make our own proteins.
Homocystinuria (HCU) is a rare but potentially serious inherited condition. It means the body can't process the amino acid methionine. This causes a harmful build-up of substances in the blood and urine.
This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
A number sign (#) is used with this entry because maple syrup urine disease (MSUD) can be caused by homozygous or compound heterozygous mutation in at least 3 genes: BCKDHA (608348) on chromosome 19q13, BCKDHB (248611) on chromosome 6q14, and DBT (248610) on chromosome 1p21.
Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD (see this term) that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine.