Global Variome shared LOVD

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Phenotype #0000351624 Individual ID 00466241 Associated disease MSUD Diagnosis/Initial maple syrup urine disease Diagnosis/Definite MSUD1B Phenotype details classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had neurological insult after the first metabolic crisis with development of seizures. She had no hospital readmission for crisis from diagnosis till now. Inheritance Familial, autosomal recessive Age/Examination 6.1y Age/Diagnosis - Age/Onset 10d Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-08-12 16:24:44 +02:00 (CEST) Date last edited N/A

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