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Medical Article
A 17-year-old male patient initially presented in the neonatal period with poor feeding, hypotonia, and episodes of apnea. On admission, he was noted to have hypoglycemia (30 mg/dL), metabolic acidosis (pH 7.30), and elevated urinary ketones (3+). Plasma amino acid analysis revealed significantly elevated branched-chain amino acids. He received ven

Diagnosis of Liver Involvement in a Branched-Chain Disorder
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