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.
References
- http://ghr.nlm.nih.gov/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency
- http://www.newbornscreening.info/Parents/organicaciddisorders/HMGCoA.html
More Symptoms Content
Are there earlier onset, later onset, or variant forms of 3-hydroxy-3-hethylglutaric Aciduria (HMG)?
What health problems should I look for in 3-Hydroxy-3-Methylglutaric Aciduria (HMG)?
Are there any other diseases that look like 3-hydroxy-3-methylglutaric aciduria (HMG)?
Is variable expression or incomplete penetrance seen with 3-Hydroxy-3-methylglutaric aciduria (HMG)?
Are there earlier onset, later onset, or variant forms of 3-hydroxy-3-hethylglutaric Aciduria (HMG)?
3-hydroxy-3-methylglutaric aciduria is a rare disorder, but all cases that have been reported in the medical literature are diagnosed within the first year of life. Each variant within the gene may cause slightly different features, but more information is needed to further assess the subtle variations that may exist.
References
What health problems should I look for in 3-Hydroxy-3-Methylglutaric Aciduria (HMG)?
Low blood sugar is something that all patients with 3-hydroxy-3-methylglutaric aciduria should monitor, even if their syndrome is controlled by diet. If this syndrome goes undiagnosed, babies with 3-hydroxy-3-methylglutaric aciduria will most likely pass away or have permanent brain damage.
Are there any other diseases that look like 3-hydroxy-3-methylglutaric aciduria (HMG)?
Organic acidurias generally look similar when they are first presenting during the newborn period. If a child starts exhibiting some of these symptoms, it is important to test the blood and urine for amino acids and organic acids to make the proper diagnosis.
Reye syndrome has been a misdiagnosis in the past.
Is variable expression or incomplete penetrance seen with 3-Hydroxy-3-methylglutaric aciduria (HMG)?
Because 3-Hydroxy-3-methylglutaric aciduria is so rare, it is difficult to answer this question. It appears that different families may demonstrate similar features and some children even within the same family may be more susceptible to metabolic decompensation with fasting or illness compared to others within the same family that have 3-Hydroxy-3-methylglutaric aciduria.
Changes reported within this gene do lead to this syndrome. Incomplete penetrance has not been reported.
