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Molybdenum cofactor deficiency.

Paldeep S Atwal1, Fernando Scaglia2

  • 1Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA; Center for Individualized Medicine FL, Mayo Clinic, Jacksonville, FL, USA; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.

Molecular Genetics and Metabolism
|December 15, 2015
PubMed
Summary
This summary is machine-generated.

Molybdenum cofactor deficiency (MoCD) is a severe metabolic disorder. Early treatment with cyclic PMP shows promise for near-normal neurological outcomes in MoCD type A patients.

Keywords:
Cyclic PMPMolybdenum cofactor deficiencyNeonatal seizuresS-sulfocysteine

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Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Molybdenum cofactor deficiency (MoCD) is a severe autosomal recessive metabolic disorder.
  • It presents neonatally with intractable seizures, developmental delay, and neurological impairment due to enzyme deficiencies.
  • Accumulation of sulfite and other metabolites exacerbates neurological damage.

Purpose of the Study:

  • To review Molybdenum cofactor deficiency (MoCD).
  • To focus on the therapeutic potential of cyclic PMP for MoCD type A.
  • To describe evidence for treating MoCD type A caused by MOCD1 variants.

Main Methods:

  • Literature review of MoCD.
  • Analysis of published evidence on cyclic PMP treatment.
  • Focus on MoCD type A caused by MOCD1 gene variants.

Main Results:

  • MoCD leads to deficiency in key molybdenum cofactor-dependent enzymes.
  • Accumulation of toxic metabolites causes severe neurological impairment.
  • Early cyclic PMP treatment demonstrates potential for improved neurological outcomes in MoCD type A.

Conclusions:

  • MoCD type A was previously a neonatal lethal condition with limited options.
  • Cyclic PMP represents a promising therapeutic option for MoCD type A.
  • This treatment can potentially lead to near-normal neurological outcomes.