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Molybdenum Cofactor Deficiency Type A disease in Northern Israel.

Eliyahu Fund1, Hanna Mandel2, Yoav Zehavi3

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Summary

Molybdenum cofactor deficiency (MoCD) type A is a severe genetic disorder. In Northern Israel, it presents in newborns with neurological decline and early death, linked to founder mutations and consanguinity.

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Area of Science:

  • Genetics
  • Biochemistry
  • Neurology

Background:

  • Molybdenum cofactor deficiency (MoCD) encompasses three autosomal recessive disorders.
  • MoCD type A, caused by MOCS1 gene variants, impairs cyclic pyranopterin monophosphate synthase, a key enzyme in molybdenum cofactor synthesis.
  • Affected infants typically exhibit intractable seizures and progressive encephalopathy within weeks of birth.

Purpose of the Study:

  • To investigate the clinical, neuroradiological, and genetic characteristics of MoCD type A in Northern Israel.
  • To understand the disease's prevalence and specific features within this regional population.

Main Methods:

  • Retrospective analysis of clinical, brain imaging, and genetic data.
  • Inclusion of confirmed MoCD type A patients from Northern Israel.

Main Results:

  • Ten deceased MoCD type A patients (6 males, 4 females) from consanguineous families were studied.
  • Four distinct homozygous genotypes were identified among patients, predominantly of Arab Muslim and Druze ethnicity.
  • All patients displayed severe neonatal onset with profound developmental delays, intractable epilepsy, microcephaly, and high early mortality.

Conclusions:

  • MoCD type A, though globally rare, shows higher prevalence in Northern Israel due to founder mutations and consanguinity.
  • The severe neonatal form with significant neurological deterioration and early lethality is characteristic in this population.