3-hydroxy-3-methylglutaric aciduria (HMG)

Symptoms

What are the main signs and symptoms of 3-hydroxy-3-methylglutaric aciduria (HMG) disease?

3-hydroxy-3-methylglutaric aciduria will generally appear within the first year of life. Presenting symptoms include vomiting, diarrhea, dehydration, extreme tiredness, and weak muscle tone. If this syndrome goes undiagnosed, when the infant is having one of these episodes their blood sugar may become dangerously low and the acidity of their blood will become increased (metabolic acidosis). If this syndrome is not diagnosed the patient may start having breathing problems, convulsions, coma, and ultimately death.

http://ghr.nlm.nih.gov/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency

http://www.newbornscreening.info/Parents/organicaciddisorders/HMGCoA.html

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