Background: Metabolic diseases considered to be rare diseases. However, data on the exact birth incidences of these diseases are sparse. Southern of Israel inhabited by two major populations: a relatively non-consanguineous Jewish population and a highly consanguineous Muslim Bedouin population. Our study aim was to calculate the incidences of various metabolic pediatric diseases at southern of Israel and compare the incidences between these two populations.
Methods: A retrospective analysis conducted at Soroks University Medical Center (SUMC) from 1995 to 2018. The following metabolic diseases were evaluated:
- Aminoacidopathies – Maple Syrup Urine Disease (MSUD), Non-Ketotic Hyperglycinemia;
- Organic acidemia – Glutaric Aciduria;
- Lysosomal storage diseases – Pompe disease, Mucopolysaccharidosis type 3a and type 4a;
- Mitochondrial diseases;
- Fatty acid oxidation disease – Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD);
- Sphingolipidosis – Niemann–Pick disease type 1;
- Glycogen Storage diseases – type 3 and type 6.
The amount of live births by population extracted from Israeli Central Bureau of Statistics was the denominator for calculating the incidences by population.
Results: Higher incidence of rare metabolic pediatric diseases were found among Bedouin population related to Jewish population.
Conclusion: Pediatric metabolic diseases are not rare diseases among Bedouin population, known as a consanguineous population; these diseases are significantly more common in the Bedouin population. This finding is probably also applicable to other consanguineous populations. At these populations, metabolic pediatric diseases should not be regarded as rare disease, hence it should be considered at clinical differential diagnosis process.
