![]() Their diet must be adhered to strictly and permanently. Usually, patients are also monitored by a dietician. ![]() As these three amino acids are required for proper metabolic function in all people, specialized protein preparations containing substitutes and adjusted levels of the amino acids have been synthesized and tested, allowing MSUD patients to meet normal nutritional requirements without causing harm. Keeping MSUD under control requires careful monitoring of blood chemistry and involves both a special diet and frequent testing.Ī diet with minimal levels of the amino acids leucine, isoleucine, and valine must be maintained in order to prevent neurological damage. ![]() There are several variations of the disease: Variant forms of the disorder may appear later in infancy or childhood and are typically less severe, but still involve mental and physical problems if left untreated. The most common and severe form of the disease is the classic type, which appears soon after birth. Maple syrup urine disease can be classified by its pattern of signs and symptoms, or by its genetic cause. MSUD is caused by a deficiency of the metabolic enzyme branched-chain α-keto acid dehydrogenase (BCKDH), leading to a buildup of the branched-chain amino acids (leucine, isoleucine, and valine) and their toxic by-products in the blood and urine.Ĭharacterized in an infant by the presence of sweet-smelling urine, with an odor similar to that of maple syrup, infants with this disease seem healthy at birth but if left untreated suffer severe neurological damage, and eventually die.įrom early infancy, symptoms of the condition include poor feeding, vomiting, dehydration, lethargy, hypotonia, seizures, ketoacidosis, and neurological decline.
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