Global Variome shared LOVD

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

Phenotype #0000351619 Individual ID 00466236 Associated disease MSUD Diagnosis/Initial maple syrup urine disease Diagnosis/Definite MSUD1A Phenotype details classic MSUD with rapid deterioration to coma and NICU admission with ventilation. He had one hospital readmission for severe metabolic crisis at the age 3.0 years which required PICU admission. Inheritance Familial, autosomal recessive Age/Examination 5.7y Age/Diagnosis - Age/Onset 10d Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-08-12 16:24:44 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.