The Metabolic Disease Unit consists of an outpatient clinic and a laboratory service. The unit takes a multidisciplinary approach to multi-system metabolic diseases.  This approach plays a central role in our Neuro-Metabolic and Neuro-Metabolic Genetic Clinics. Our laboratory service offers the most modern analysis and diagnosis of Organic Acid Disorders, Amino Acid Disorders, and disorders of Carbohydrate Metabolism.

We also provide consultations to departments both inside and outside the hospital. Patients with special problems in inherited metabolic diseases are referred by their doctor for diagnostic advice, clinical assessment, dietary guidance, and different therapies.

The Metabolic Disease Unit was established in 2002 and both our laboratory and clinical services are still developing and expanding.
 
The unit has special interests and expertise in Costeff Syndrome, Phenylketonuria, Molecular Genetics and Newborn Screening (NBS).

Costeff syndrome 
Costeff Syndrome (type III 3-Methylglutaconic Aciduria) is a Neuro-Ophthalmologic Syndrome that consists of Early-Onset Bilateral Atrophy and Later-Onset Spasticity. This disorder has been reported in around 40 Israeli patients of Iraqi Jewish origin.

We recently isolated the causative gene OPA3 and found a point mutation that segregated with the Costeff Syndrome Phenotype. The product's function remains unknown. This area of research is one of the basic research projects of our laboratory.

We offer molecular diagnosis for patients and their families. We have started a multidisciplinary clinical evaluation and support group for these patients.
 
Phenylketonuria (PKU)
We provide a national service for patients with any of the Hyperphenylalaninaemia variants. These patients are identified by the national newborn screening (Guthrie-card) program. There are currently approximately 350 patients treated in the clinic. A physician, a fulltime dietician, a psychologist and a social worker-all with expertise in the management of this condition-provide this service. We are initiating the process of providing a molecular basis for all the PKU patients enabling improved pre-natal diagnosis and opening horizons for new treatments.

Molecular Genetics
The Metabolic Unit includes a well-equipped molecular genetics laboratory. The laboratory is currently involved in a project to determine the molecular basis for the following inborn metabolic diseases diagnosed in our unit:

• Galactosemia
• Maple Syrup Urine Disease (MSUD)
• Sulfite Oxidase Deficiency
• Glucose-Galactose Malabsorption
  We further aim to use this laboratory as the main focus of our research projects.

Newborn Screening (NBS)
The Newborn Screening Program in Israel includes evaluation for the presence of Hypothyroidism and PKU in all newborns. In order to assess the need and efficacy of a broader screening program, the metabolic unit and the Ministry of Health is undertaking a pilot program using the Tandem MS designed to screen for 25 metabolic disorders. The pilot program will assess 60,000 samples and will give a picture of the current situation in Israel as a first step in expanding the NBS service.

Unit at a Glance
Number of Outpatients per Year - 100
Director - Dr. Yair Anikster
Address - The Edmond & Lily Safra Children's Hospital
E-mail - Yair.Anikster@sheba.health.gov.il
Tel - 972-3-530-5017