Maple syrup urine disease

From WikiMD
Jump to navigation Jump to search

An autosomal recessive inherited disorder caused by mutations in the bckdha, bckdhb, dbt, and dld genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.

WikiMD is a free medical encyclopedia and wellnesspedia moderated by medical professionals.

Articles on Maple syrup urine disease

This article is a stub. YOU can help Wikimd by expanding it!

WikiMD resources 360 on Maple syrup urine disease - scientific articles to social media


Policies / Guidelines Social Media


Patient Resources / Community
Facebook posts

Evidence Based Medicine

Healthcare Provider Resources
YouTube videos

Clinical Trials

External:W8MD Weight Loss, Sleep & MedSpa Wellness Topics A-Z Other resources

A | B | C | D | E | F | G

H | I | J | K | L | M | N

O | P | Q | R | S | T | U

V | W | X | Y | Z

Ad. Tired of being overweight? W8MD's insurance weight loss* program can HELP | Advertise on WikiMD

Disclaimer: The entire contents of WIKIMD.ORG are for informational purposes only and do not render medical advice or professional services. If you have a medical emergency, you should CALL 911 immediately! Given the nature of the wiki, the information provided may not be accurate and or incorrect. Use the information on this wiki at your own risk! See full Disclaimer. * Individual results may vary.