Global Variome shared LOVD

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

Phenotype #0000351622 Individual ID 00466239 Associated disease MSUD Diagnosis/Initial maple syrup urine disease Diagnosis/Definite MSUD1A Phenotype details moderate; asymptomatic . She was diagnosed by newborn screening program due to family history of previous sib death with MSUD and she had no hospital admission. Positive family history of an elder sister with classic MSUD, moderate phenotype with rapid deterioration, NICU admission and ventilation in the first week. At the age of 3 month she developed convulsions. She was diagnosed at age of 6 month and started treatment. Then after 3 months she died with fever. Inheritance Familial, autosomal recessive Age/Examination 8.3y 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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