Global Variome shared LOVD

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

Phenotype #0000351616 Individual ID 00466233 Associated disease MSUD Diagnosis/Initial maple syrup urine disease Diagnosis/Definite MSUD1A Phenotype details severe; classic MSUD with rapid deterioration and NICU admission. He required no ventilation. He was readmitted to hospital only two times during the first year with metabolic decompensation. Inheritance Familial, autosomal recessive Age/Examination 8.3y 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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