Global Variome shared LOVD

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

Phenotype #0000351617 Individual ID 00466234 Associated disease MSUD Diagnosis/Initial maple syrup urine disease Diagnosis/Definite MSUD1A Phenotype details severe; classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had neurological insult after first crisis with development of seizures. She had repeated hospital readmissions with metabolic decompensation from diagnosis till now. Inheritance Familial, autosomal recessive Age/Examination 2.2y Age/Diagnosis - Age/Onset 7d 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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