Phenotype #0000351635

Individual ID 00466252
Associated disease MSUD
Diagnosis/Initial maple syrup urine disease
Diagnosis/Definite MSUD1B
Phenotype details classic MSUD with rapid deterioration and admission to NICU with ventilation. The EMS was done at age of one month and was diagnostic for MSUD. At the age of 6 years, he was admitted to PICU with convulsions and coma. He had history of frequent hospital readmission for metabolic crisis.
Inheritance Familial, autosomal recessive
Age/Examination 7.1y
Age/Diagnosis -
Age/Onset 7d
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons 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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