The Pediatric Metabolism Unit diagnoses, treats and studies genetic–biochemical diseases – caused by a deficiency in the proteins (enzymes) responsible for normal functioning of the different body systems. Early detection of metabolic diseases is critical for effective treatment, can often save lives, and enables genetic counseling to be given to other family members.
The unit is a regional center, providing services to the population of northern Israel, and is a national center for genetic-metabolic diseases such as Pompe disease, MSUD, Smith Lemli Opitz syndrome and others.
The unit comprises physician specialists, a clinical dietician, nurse and social worker, and a laboratory, led by a physician-researcher and 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 new understandings of their operating mechanisms and treatment approaches.