maple syrup urine disease

Học thuật
Thân thiện
Definition

Noun: An inherited metabolic disorder characterized by urine that has a distinctive sweet odor resembling maple syrup. If left untreated, the condition can lead to intellectual disability and death in early childhood.

Usage

This term is used specifically in medical contexts to name a rare genetic disease. * The newborn screening test detected markers for maple syrup urine disease. * Management of maple syrup urine disease requires a strict, lifelong diet.

Advanced Usage
  • The condition is often abbreviated as MSUD in clinical settings.
    • The dietitian specializes in creating meal plans for patients with MSUD.
Variants and Related Words
  • Branched-chain ketoaciduria: An alternative medical name for the same disorder, referring to the specific biochemical defect involving branched-chain amino acids.
Synonyms
  • Branched-chain ketoaciduria (medical synonym)
Noun
  1. an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood

Từ đồng nghĩa