Over 27 years of study period there were 393,772 live births in the Negev district of Southern Israel. Among them 187,049(48%) were of Jewish origin while 206,723(52%) were of Bedouin-Muslim origin. A total of 223 children were diagnosed in this study period with IMDs. All of those children were diagnosed in Soroka University Medical Center by clinical suspicion and/or laboratory testing in hospital or by the Israeli newborn screening program. Among those 223 children with IMD, 33(15%) were of Jewish origin while the other 190(85%) children were of Bedouin-Muslim origin. The overall incidence for IMDs of the Negev population was 56.6/100,000 live birth. The incidence for IMD's among the Bedouin population was significantly higher than among Jewish population (101.6/100,000 Vs 16/100,000, respectively, P value < 0.001), (Table 1).
Table 1
– Incidence of inherited metabolic diseases categories among Jews Vs. Bedouin-Muslim population, in southern of Israel, between the years 1990–2017
Disease category | Overall incidence/100,000 live births | Incidence among Bedouin-Muslim/100,000 live births | Incidence among Jews/100,000 live births | P value |
Overall | 56.6 | 101.6 | 16 | < 0.001 |
Aminoaciduria | 8.6 | 18.2 | 0 | < 0.001 |
Peroxisomal diseases | 5.3 | 9.1 | 1.9 | < 0.001 |
Sphingolipidosis | 4.8 | 9.1 | 1 | < 0.001 |
Organic Aciduria | 2 | 4.3 | 0 | 0.003 |
Fatty Acid Oxidation Diseases | 4.8 | 7 | 2.9 | 0.02 |
Mucopolysaccharidosis | 6.9 | 12.8 | 1.5 | < 0.001 |
Glycogen Storage diseases* | 11.2 | 15 | 7.7 | 0.03 |
Pompe disease (type 2 Glycogen storage disease) | 2.3 | 4.8 | 0 | 0.003 |
Mitochondrial diseases | 10.7 | 21.4 | 1 | < 0.001 |
Birth incidence for all IMD's categories was significantly higher among the Bedouin-Muslim population in comparison with the Jewish population, as presented in Table 1. The incidence of Peroxisomal diseases for Bedouin-Muslims per 100,000 live births was 9.1 while for Jewish it was 1.9. Similar differences were demonstrated for Sphingolipidoses (9.1/100,000 for Muslims-Bedouin Vs 1/100,000 for Jewish), Fatty Acid Oxidation Defects (7/100,000 Vs. 2.9/100,000), Mucopolysaccharidosis (12.8/100,000 Vs 1.5/100,000) and Glycogen Storage Diseases (15/100,000 Vs 7.7/100,000). For Aminoacidurias, Organic acidurias and Pompe disease there were no affected Jewish children while the incidence of Bedouin-Muslims with disease was 18.2/100,000, 4.3/100,000 and 4.8/100,000, respectively.
Table 2 presents the births incidences for each IMD. For most of the diseases’ subtypes the incidence among the Bedouin-Muslim population was higher compared to the Jewish population. The only disease with statistically significant higher incidence among the Jewish population was Glycogen Storage disease type 1A with an incidence of 2.9/100,000 live births among Jewish patients Vs. no affected patients among the Bedouin-Muslims population. For the following diseases the incidence among the Bedouin-Muslims population was statistically higher significantly than for the Jewish population: Maple Syrup Urine Disease (10.2/100,000 Vs. 0/100,000, respectively), Non-Ketotic Hyperglycinemia (8/100,000 Vs. 0/100,000, respectively), Zellweger disease (8.2/100,000 Vs. 0.5/100,000, respectively), Niemann-Pick C type 1 (9.1/100,000 Vs. 1/100,000, respectively), Glutaric Aciduria type 1 (4.3/100,000 Vs. 0/100,000, respectively), Very Long Chain Acyl-CoA Dehydrogenase deficiency (4.3/100,000 Vs. 0.5/100,000, respectively), Mucopolysaccharidosis type 3 (3.7/100,000 Vs. 0.5/100,000, respectively) and type 4 (5.9/100,000 Vs. 0/100,000, respectively), Glycogen Storage disease type 1B (8/100,000 Vs. 0.5/100,000, respectively), type 3 (3.7/100,000 Vs. 0/100,000, respectively) and type 6 (4.8/100,000 Vs. 0/100,000, respectively), Pompe disease (4.8/100,000 Vs. 0/100,000, respectively), Complex 1 deficiency (5.9/100,000 Vs. 0/100,000, respectively), Complex 3 deficiency (7/100,000 Vs. 0/100,000, respectively) and Complex 5 deficiency (3.7/100,000 Vs. 0/100,000, respectively).
Table 2
– Incidence of each inherited metabolic disease among Jews Vs. Bedouin-Muslim population, in southern of Israel, between the years 1990–2017
Disease category | Overall incidence/100,000 live births | Incidence among Bedouin-Muslim/100,000 live births | Incidence among Jews/100,000 live births | P value |
Aminoacidopathy: | | | | |
Maple Syrup Urine Disease (MSUD) | 4.8 | 10.2 | 0 | < 0.001 |
Non-Ketotic Hyperglicinemia | 3.8 | 8 | 0 | < 0.001 |
Peroxisomal diseases: | | | | |
X-linked Adrenoleukodystrophy | 0.8 | 0 | 1.6 | 0.1 |
Zellweger disease | 4.6 | 8.2 | 0.5 | < 0.001 |
Sphingolipidosis: | | | | |
Niemann Pick C type 1 | 4.8 | 9.1 | 1 | < 0.001 |
Organic Aciduria: | | | | |
Glutaric Aciduria type 1 | 2 | 4.3 | 0 | 0.003 |
Fatty Acid Oxidation Diseases: | | | | |
Multiple Acyl-coA Dehydrogenase deficiency | 0.5 | 1 | 0 | 0.1 |
Medium Chain Acyl-CoA Dehydrogenase deficiency | 1 | 0.5 | 1.5 | 0.4 |
Very Long Chain Acyl-CoA Dehydrogenase deficiency | 2.3 | 4.3 | 0.5 | 0.01 |
Carnitine Palmitoyl- transferase 1A | 0.3 | 0.5 | 0 | 0.3 |
Carnitine Palmitoyl- transferase 2 | 0.5 | 0 | 1 | 0.2 |
Long Chain 3-hydroxyl-CoA Dehydrogenase deficiency | 0.5 | 0.3 | 0 | 0.3 |
Mucopolysaccharidosis: | | | | |
Mucopolysaccharidosis type 1 | 1 | 1.1 | 1 | 0.9 |
Mucopolysaccharidosis type 3 | 2 | 3.7 | 0.5 | 0.02 |
Mucopolysaccharidosis type 3 | 2.8 | 5.9 | 0 | < 0.001 |
Unclassified Mucopolysaccharidosis | 0.8 | 1.1 | 0.5 | 0.6 |
Glycogen Storage diseases*: | | | | |
Glycogen Storage disease type 0 | 0.3 | 0 | 0.5 | 0.3 |
Glycogen Storage disease type 1A | 1.5 | 0 | 2.9 | 0.02 |
Glycogen Storage disease type 1B | 4.1 | 8 | 0.5 | < 0.001 |
Glycogen Storage disease type 3 | 1.8 | 0 | 3.7 | < 0.001 |
Glycogen Storage disease type 6 | 2.3 | 4.8 | 0 | < 0.001 |
Glycogen Storage disease type 9 | 0.3 | 0.5 | 0 | 0.3 |
Glycogen Storage disease type 11 | 0.3 | 0.5 | 0 | 0.3 |
Unclassified Glycogen Storage disease | 0.8 | 1.1 | 0.5 | 0.6 |
Pompe disease (type 2 Glycogen storage disease) | 2.3 | 4.8 | 0 | 0.003 |
Mitochondrial diseases: | | | | |
Complex 1 deficiency | 2.8 | 5.9 | 0 | < 0.001 |
Complex 3 deficiency | 3.3 | 7 | 0 | < 0.001 |
Complex 5 deficiency | 1.8 | 3.7 | 0 | 0.005 |
Pyruvate Dehydrogenase Deficiency type 1A | 0.3 | 0 | 0.5 | 0.3 |
Pyruvate Dehydrogenase Deficiency type E3 | 0.5 | 1.1 | 0 | 0.2 |
Kearns Sayre syndrome | 0.3 | 0 | 0.5 | 0.3 |
Mitochondrial Neuro-GastroIntestinal Encephalopathy disease | 0.3 | 0.5 | 0 | 0.3 |
Trans-Membrane Protein 70 (TMEM70) deficiency | 0.5 | 1.1 | 0 | 0.2 |
Mitochondrial DNA depletion | 0.5 | 1.1 | 0 | 0.2 |
Unspecified mitochondrial disease | 0.3 | 0.5 | 0 | 0.3 |
The incidences of other IMD that were included in this study were not statistically different between the 2 populations.