Maple syrup urine disease- type 2
Overview
A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 2 specifically involves a defect in the E2 subunit gene.
Symptoms
* Vomiting * Feeding difficulty * Failure to thrive * Absence of grasping reflex * Irregular breathing
Diagnosis
Home medical testing related to Maple syrup urine disease, type II: * Bladder & Urinary Health: Home Testing: o Home Bladder Tests o Home Urinary Tract Infection (UTI) Tests o Home Cystitis Tests o Home Kidney Tests o Home Urine Protein Tests (Kidney Function) o Home Prostate Cancer Tests * Prostate Health: Home Testing: o Home Prostate Tests o Home PSA Antigen Tests o Home Testosterone Tests * Kidney Health: Home Testing: o Home Microalbumin Tests (Kidney) o Home Urine Protein Tests (Kidney) o Home Urinary Tract Infection (UTI) Tests
Treatment
* Urinary & Bladder Specialists (Urology): o Urology o Urological Surgery * Kidney Health Specialists (Nephrology): o Nephrology (Kidney Health) o Pediatric Nephrology (Child Kidney Health) o Urology (Urinary/Bladder)