Pediatric Metabolism Unit

תמונה ראשית-מטבולית ילדים

Pediatric Metabolism Unit

The Pediatric Metabolism Unit diagnoses, treats and studies genetic–biochemical diseases caused by a deficiency in the proteins (enzymes) responsible for normal functioning of different body systems. Early detection of metabolic diseases is critical for effective treatment, can often save lives, and enables provision of genetic counseling to other family members.

A regional center, the unit provides services to the population of Northern Israel and is a national center for genetic-metabolic diseases such as Pompe disease, MSUD, and Smith Lemli Opitz syndrome.

The unit staff is comprised of physician specialists, a clinical dietician, nurses, and social worker , and has a laboratory led by a physician-researcher as well as a team of biochemists with extensive experience in diagnosing and studying metabolic diseases.

The unit conducts clinical and basic research in collaboration with researchers at Rambam and other medical centers in Israel and overseas. These studies have led to the mapping of genes and a new understanding of their operating mechanisms and treatment approaches.