Last Updated
：2025/11/28
maple syrup urine disease
Noun
uncountable
Japanese Meaning
分岐鎖ケト酸尿症 / 常染色体劣性遺伝の代謝障害で、分岐鎖アミノ酸の代謝異常により、尿が特徴的な甘いにおいを示す疾患
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Branched-chain ketoaciduria, an autosomal recessive metabolic disorder affecting branched-chain amino acids and causing the urine to have a distinctive sweet odour.
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maple syrup urine disease
After persistent feeding problems and a characteristic sweet smell, the infant was diagnosed with maple syrup urine disease.
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After persistent feeding problems and a characteristic sweet smell, the infant was diagnosed with maple syrup urine disease.
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