Phenotype #0000351627

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466244
Associated disease	MSUD
Diagnosis/Initial	maple syrup urine disease
Diagnosis/Definite	MSUD1B
Phenotype details	moderate; classic MSUD, with early coma at the age of 4 days followed by rapid deterioration that required ventilation for one month. She was, then, diagnosed by Ms/Ms and received treatment for MSUD. She was readmitted one time at 5 years of age due to metabolic crisis.
Inheritance	Familial, autosomal recessive
Age/Examination	6.5y
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