Global Variome shared LOVD

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

Phenotype #0000351639 Individual ID 00466256 Associated disease MSUD Diagnosis/Initial maple syrup urine disease Diagnosis/Definite MSUD2 Phenotype details moderate; asymptomatic She was diagnosed on second day by NBS program due to previous sib diagnosed with MSUD (P25) with no history of hospital admissions. At the age of 3 year, she was admitted to hospital for 1 week due to metabolic decompensation. Inheritance Familial, autosomal recessive Age/Examination 6.1y Age/Diagnosis - Age/Onset - 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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