Last Updated:2025/11/28

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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持続する授乳不良と特徴的な甘い匂いの後、乳児は分枝鎖ケト酸尿症(常染色体劣性の代謝疾患で、分枝鎖アミノ酸の代謝異常により尿が甘い匂いを帯びる)と診断されました。

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