Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000351618 Individual ID 00466235 Associated disease MSUD Diagnosis/Initial maple syrup urine disease Diagnosis/Definite MSUD1A Phenotype details classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had two hospital readmissions for metabolic decompensation from diagnosis till now. Inheritance Familial, autosomal recessive Age/Examination 4.6y Age/Diagnosis - Age/Onset 5d 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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