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Maple syrup urine disease
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Maple syrup urine disease : ウィキペディア英語版
Maple syrup urine disease

Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. The condition gets its name from the distinctive sweet odor of affected infants' urine, particularly prior to diagnosis, and during times of acute illness.〔(【引用サイトリンク】title=Maple syrup urine disease )
==Signs and symptoms==
The disease is named for the presence of sweet-smelling urine, with an odor similar to that of maple syrup, when the person goes into metabolic crisis. The smell is also present and sometimes stronger in the ear wax of an affected individual at these times. Infants with this disease seem healthy at birth but quickly deteriorate, often with severe brain damage, which may be permanent. Without prompt treatment they will die from brain swelling.
Untreated, and during times of metabolic crisis, symptoms of the condition include anorexia, vomiting, dehydration, lethargy, hypotonia, seizures, hypoglycaemia, ketoacidosis, opisthotonus, pancreatitis, rapid neurological decline, coma and cerebral oedema.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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