Publications by authors named "Giangiacomo Garrone"
Article Synopsis
- 3-hydroxy-3-methylglutaric aciduria is a rare genetic metabolic disorder caused by a deficiency in the enzyme HMG-CoA lyase, affecting the body's ability to process certain nutrients.
- Acute symptoms can include lethargy, vomiting, low muscle tone, cyanosis, and metabolic issues, often presenting as hypoglycemic crises, as seen in a 3-day-old male initially misdiagnosed with sepsis.
- Timely diagnosis through acyl-carnitine profiling and urine organic acid analysis is critical for effective treatment and prevention of severe complications related to this metabolic disorder.
