Phenotype #0000351631

Global Variome shared LOVD

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

Individual ID	00466248
Associated disease	MSUD
Diagnosis/Initial	maple syrup urine disease
Diagnosis/Definite	MSUD1B
Phenotype details	severe; classic MSUD, developed poor suckling and convulsion on the second day after birth. He was admitted to NICU and ventilated for 30 days. He was then discharged undiagnosed. He was diagnosed by Ms/Ms at 5 months. He had multiple hospital readmissions for metabolic crisis.
Inheritance	Familial, autosomal recessive
Age/Examination	1.5y
Age/Diagnosis	-
Age/Onset	2d
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