maple syrup urine disease
branched chain ketoaciduria

They don't call it maple syrup urine disease for nothing, though.

You may find the following resources about maple syrup urine disease helpful.

Also call immediately if you have a newborn who has symptoms of maple syrup urine disease.

"You didn't just think of this maple syrup urine disease business, did you?"

Maple syrup urine disease is often classified by its pattern of signs and symptoms.

These resources address the diagnosis or management of maple syrup urine disease and may include treatment providers.

Mutations in the following genes cause maple syrup urine disease:

If untreated, maple syrup urine disease can lead to seizures, coma, and death.

Opportunity for support and personal contact for those with maple syrup urine disease and their families.

Genetic counseling is suggested for people who want to have children and who have a family history of maple syrup urine disease.

Maple syrup urine disease, a defect in the ability to break down some proteins in the diet of newborns.

Correcting problems in people with certain types of genetic diseases including Leigh's disease, maple syrup urine disease, and others.

Maple syrup urine disease (MSUD) is a genetic medical disorder.

Specifically, 'maple syrup urine disease.'"

Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly.

Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency.

Because high levels of these substances are toxic to the brain and other organs, their accumulation leads to the serious medical problems associated with maple syrup urine disease.

Guthrie and colleagues also developed bacterial inhibition assays for the detection of maple syrup urine disease and classic galactosemia.

Maple syrup urine disease (MSUD) is a metabolism disorder passed down through families in which the body cannot break down certain parts of proteins.

They developed bacterial inhibition assays for galactosemia and maple syrup urine disease that could be run using the same sample collection as the PKU test.

These accumulations lend a sweet smell to bodily excretions (such as ear wax and urine), leading to a pathology known as maple syrup urine disease.

Opisthotonus in the neonate may be a symptom of meningitis, tetanus, severe kernicterus, or the rare Maple Syrup Urine Disease.

Maple Syrup Urine Disease (Overview on NLM)

Maple syrup urine disease and other inborn errors of metabolism have been detected in about one in 10 cases of crib death, or sudden infant death syndrome.

"The most common indication of maple syrup urine disease is a characteristic odor, a distinctive maple syrupy odor of the urine and perspiration.

It is also called branched chain ketoaciduria.