The Metabolic Biochemistry Laboratory
Laboratory Director: Dr. Elena Dumin
Phone: 03-5302553
Email: elena.dumin@sheba.gov.il
Quality assurance: Dr. Yael Kutz
Phone: 03-5302553
Email: yael.kutz@sheba.gov.il
Secretary: Sarit Shatshuili
Phone: 03-5302553
Email: Sarit.Shatashuili@sheba.gov.il
Contact:
Phone: 03-5302553
Email: ClinicalBiochemistryLab@sheba.health.gov.il
Fax: 03-5302552
Operating times:
Sunday to Thursday, 8:00-15:00
Location:
Laboratory wing, Ground floor
The Laboratory for Metabolic Biochemistry provides a diverse range of advanced and intricate biochemical tests for the diagnosis and monitoring of hereditary and acquired metabolic diseases arising from defects in the activity of proteins, particularly enzymes responsible for creating, transporting, and breaking down intracellular metabolites, as well as those obtained from food.
These defects are frequently manifested through abnormal, and at times even toxic, concentrations of metabolites, which contribute to morbidity. Diagnosis and quantification of these defects can be performed using samples of body fluids or tissue specimens.
The causes of morbidity in metabolic diseases can be influenced by hereditary factors, environmental factors, or lifestyle. These diseases vary widely in terms of prevalence, from relatively common diseases to very rare diseases. Additionally, the symptoms and severity of metabolic diseases can also vary greatly, from minor to life-threatening.
For a comprehensive diagnostic assessment, the metabolic biochemistry laboratory experts engage in ongoing dialogue with metabolic doctors. Together, they determine the suitable test profile for each subject and, if necessary, suggest additional laboratory tests based on the patient's evolving clinical condition. The metabolic biochemistry laboratory is equipped with state-of-the-art analytical instruments, ensuring the performance of the latest and most pertinent metabolic tests.
These include, among others, HPLC instruments, UPLC/MS/MS, GC/MS/MS electrophoresis, spectrophotometry. These analyzers help determine the levels of amino acids, organic acids, fatty acids, steroids, biogenic amines, vitamins, and minerals. These help us assess whether these metabolite levels indicate normal physiology.
The laboratory also monitors metabolites that serve as markers for the deficiency or excess of other metabolites associated with a particular disease. For instance, elevated levels of the metabolite methylmalonate act as a marker for vitamin B12 deficiency.
