What is BCKD deficiency?
What is BCKD deficiency?
Disease definition. A rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated.
What happens if you don’t treat MSUD?
Because people with MSUD can’t break down these three amino acids, these amino acids build up in the body, become toxic to the body and cause severe health problems. Without medical management, maple syrup urine disease can lead to a wide range of intellectual and physical disabilities and death.
What enzyme is deficient in MSUD?
Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of an enzyme complex (branched-chain alpha-keto acid dehydrogenase) that is required to break down (metabolize) the three branched-chain amino acids (BCAAs) leucine, isoleucine and valine, in the body.
What protein is affected by MSUD?
Babies with MSUD are unable to break down amino acids called leucine, isoleucine and valine. Very high levels of these amino acids are harmful. One of the characteristic symptoms of MSUD is sweet-smelling urine, which gives the condition its name.
Why does my pee smell like maple syrup?
Maple syrup urine disease (MSUD) is a disorder in which the body cannot break down certain parts of proteins. The urine of people with this condition can smell like maple syrup.
Why does my skin smell like maple syrup?
The most distinct and easily recognizable symptom of MSUD is the smell. Urine, sweat, and even the earwax of people with MSUD will often have a sweet smell similar to maple syrup or burnt sugar. The severity and number of symptoms varies for each person with the disease and each type of MSUD.
Is genetic counseling an option for MSUD?
MSUD follows an autosomal recessive inheritance pattern and genetic counseling is possible.
Which test will be positive in urine of patient with maple syrup urine disease?
Plasma amino acids testing Plasma amino acids (PAA) testing should be performed to assess for elevated levels of branched-chain amino acids (BCAAs) and to detect l-alloisoleucine (derived from l-isoleucine). The detection of l-alloisoleucine (also termed alloisoleucine) is diagnostic for maple syrup urine disease.
What type of mutation causes MSUD?
Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder. This disorder is usually caused by mutations in any one of the genes; BCKDHA, BCKDHB and DBT, which represent E1α, E1β and E2 subunits of the branched-chain α-keto acid dehydrogenase (BCKDH) complex, respectively.
What mutation causes maple syrup urine disease?
Mutations in the BCKDHA, BCKDHB, and DBT genes can cause maple syrup urine disease. These three genes provide instructions for making proteins that work together as part of a complex.
When a girl squirts can it smell like pee?
Female ejaculation refers to about a teaspoon (3–5 cc) of fluid expelled through the urethra that looks like watered-down fat-free milk, tastes sweet, and does not smell like urine. Analysis of the fluid demonstrates that it is chemically different from urine.
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