Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 2 of 2 for Maple syrup urine "disease," mild variant
  1. Maple syrup urine disease 
    ... gov MAPLE SYRUP URINE DISEASE, TYPE IA; MSUD1A MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV PubMed Burrage LC, Nagamani SC, Campeau PM, ... a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease. Hum Mutat. 2013 Feb;34(2):355-62. ...
    https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease - Genetics
  2. DBT gene 
    ... DBT gene have been identified in people with maple syrup urine disease, most often in individuals with mild variants of the disorder. These variant forms become apparent ...
    https://medlineplus.gov/genetics/gene/dbt - Genetics