Maple+Syrup+Urine+Disease-+Justin+C

Maple Syrup Urine Disease (MSUD) **Description: ** People with this disease don’t produce one of six proteins that combine to break down amino acids such as leucine, isoleucine, and valine. These acids cause urine to have a sweet smell resembling maple syrup

**Inheritance: **MSUD is a recessive autosomal disease, so anyone can carry or be diagnosed with it.

**Punnett Square: ** **Symptoms: **Loss of appetite, fussiness, and maple syrup scented urine

**Diagnosis: **A blood sample is taken from the heel at birth and is tested for high leucine levels. If they are high, the child has MSUD.

**Treatment: **(Must be done early to prevent brain damage) Babies eat formulas without amino acids. Later in life, they watch their diet avoiding meat, eggs and nuts. If levels are too high, it can be treated with intravenous (through vein) to help body with using up the amine acids for protein synthesis.

**Interesting Facts: ** media type="custom" key="9657316" Extremely rare for most populations, about 1 out of every 180,000 children are diagnosed with MSUD Certain populations such as the Mennonites in PA have a rate of 1 out of every 176 diagnosed

<span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">MSUD family support group
 * <span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">Support Groups: **

<span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">MDJunction


 * <span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">Sources: **

nkappe.edu.glogster.com

<span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">cardinal.com <span style="color: black; font-family: 'Times','serif'; line-height: 115%;">MDJunction.com
 * <span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 0px; overflow: hidden;">﻿ **

<span style="color: black; font-family: 'Times','serif'; line-height: 115%;">MSUD-support.org

<span style="color: black; font-family: 'Times','serif'; line-height: 115%;">Learn.genetics.utah.edu


 * <span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">Pictures: **