Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.
Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal recessive[1] metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia.[2]
MSUD is caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase complex (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.
The disease is characterized 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 brain damage, and eventually die.
From early infancy, symptoms of the condition include poor feeding, vomiting, dehydration, lethargy, hypotonia, seizures, ketoacidosis, opisthotonus, pancreatitis and neurological decline.
Maple syrup urine disease can be classified by its pattern of signs and symptoms, or by its genetic cause. The most common and severe form of the disease is the classic type, which appears soon after birth. 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.
There are several variations of the disease:
Keeping MSUD under control requires careful monitoring of blood chemistry and involves both a special diet and frequent testing.
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