What is intermittent MSUD?

Intermittent MSUD is a potentially life-threatening metabolic disorder caused by a deficiency of branched-chain α-keto acid dehydrogenase, the enzyme complex that decarboxylates the 3 branched-chain amino acids.

Can MSUD go undetected?

While newborn screening programs allow for early detection of classic MSUD, cases of the intermittent form might go undetected, and present later in childhood following metabolic derailment, with an array of non-specific symptoms.

Is MSUD recessive or dominant?

MSUD follows autosomal recessive inheritance. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.

What is the inheritance pattern of MSUD?

Maple syrup urine disease is inherited in an autosomal recessive pattern. All individuals inherit two copies of each gene . Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be changed to have the condition.

How is MSUD treated?

Treatment of MSUD Typically, this involves intravenous (IV) administration of amino acids that don’t contain BCAAs, combined with glucose for extra calories. The treatment will promote the utilization of existing leucine, isoleucine, and valine in the body.

Why do I 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.

How do you test for MSUD?

Diagnosis and Tests In these cases, doctors diagnose MSUD with blood tests and by evaluating the child’s symptoms, including finding the distinctive sugar/maple smell of their sweat and urine. Genetic testing from white cells in blood can now help confirm diagnosis and also help identify types of MSUD.

Why does my son smell like maple syrup?

MSUD stands for “maple syrup urine disease.” It is named for the sweet maple syrup smell of the urine in untreated babies. This condition is one type of amino acid disorder. People with MSUD have problems breaking down certain amino acids found in protein.

Why does my husband smell like maple syrup?

Why is MSUD fatal?

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.

Why does my girlfriend smell like maple syrup?

Is MSUD curable?

Is there a permanent treatment for maple syrup urine disease (MSUD)? Since 2004, liver transplants have been very successful in treating individuals with classic MSUD. With a new liver, people with MSUD can produce the enzymes they need to break down the three amino acids that build up in body.

How is intermittent MSUD the same as classic MSUD?

Due to the indefinite distinction between the classic and intermediate forms of MSUD, disease management principles are the same for both. Intermittent MSUD is characterized by normal growth and intellectual development and affected individuals often can tolerate normal levels of amino acids in their diet.

How old do children have to be to get intermediate MSUD?

The onset and symptoms of intermediate MSUD may be neonatal, but the majority of children are diagnosed between the ages of five months and seven years. Affected children may experience seizures and neurological impairment and developmental delays of varying degrees.

Which is the most common form of MSUD?

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.

Can a person with intermediate MSUD respond to thiamine?

Individuals with intermediate MSUD have partial BCKAD enzyme deficiency that only manifests intermittently or responds to dietary thiamine therapy; these individuals can experience severe metabolic intoxication and encephalopathy during sufficient catabolic stress.