Phenotype #0000351634

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466251
Associated disease	MSUD
Diagnosis/Initial	maple syrup urine disease
Diagnosis/Definite	MSUD1B
Phenotype details	severe; classic MSUD with rapid deterioration and admission to NICU with ventilation for 30 days. Then he was discharged undiagnosed. EMS was done at the age of 3 months and was diagnostic for MSUD. He had history of frequent hospital readmission for metabolic crisis.
Inheritance	Familial, autosomal recessive
Age/Examination	5.2y
Age/Diagnosis	-
Age/Onset	4d
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-08-12 16:24:44 +02:00 (CEST)
Date last edited	N/A