Nutritional and Metabolic Diseases: News and Research on Maple Syrup Urine Disease

MeSH tree: C18.452.648.100.608

Genetics

Gene therapy developed for maple syrup urine disease shows promise

A study led by UMass Chan Medical School researchers has demonstrated that a gene therapy to correct a mutation that causes maple syrup urine disease (MSUD) prevented newborn death, normalized growth, restored coordinated ...

Feb 28, 2025

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Pediatrics

Research team develops dried blood spot CRM for newborn screening

Babies undergo a newborn screening test for inherited metabolic disorders within seven days of birth. The test checks for risk factors such as hypothyroidism, phenylketonuria and maple syrup urine disease, which can lead ...

Jan 19, 2023

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