Phenotype #0000351620

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466237
Associated disease	MSUD
Diagnosis/Initial	maple syrup urine disease
Diagnosis/Definite	MSUD1A
Phenotype details	classic MSUD with rapid deterioration at age of 3 days with poor suckling, vomiting, lethargy, irritability. He was diagnosed by Ms/Ms at 30 days of age. He had multiple hospital readmissions for metabolic decompensation from diagnosis till now.
Inheritance	Familial, autosomal recessive
Age/Examination	9.3y
Age/Diagnosis	-
Age/Onset	3d
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

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