Novel splice site mutations in the gamma glutamyl carboxylase gene in a child with congenital combined deficiency of the vitamin K-dependent coagulation factors (VKCFD)

Pediatr Blood Cancer. 2009 Jul;53(1):92-5. doi: 10.1002/pbc.22011.

Abstract

Congenital combined deficiency of the vitamin K-dependent coagulation factors is a rare bleeding disorder caused by either a defect in the gamma-glutamyl carboxylase or the vitamin K epoxide reductase enzyme complex. The diagnosis should be considered when vitamin-K dependent factor activities are decreased and liver dysfunction, vitamin K deficiency, and factitious coumarin ingestion have been excluded. We report a case of VKCFD in a child resulting from compound heterozygosity for two novel splice site mutations of the gamma-glutamyl carboxylase gene. Oral vitamin K supplementation resulted in partial resolution of proteins and complete resolution of bleeding.

Publication types

  • Case Reports

MeSH terms

  • Blood Coagulation Factors / genetics
  • Carbon-Carbon Ligases / deficiency*
  • Carbon-Carbon Ligases / genetics*
  • Child
  • Coagulation Protein Disorders / congenital*
  • Coagulation Protein Disorders / diagnosis
  • Coagulation Protein Disorders / drug therapy
  • Coagulation Protein Disorders / genetics*
  • Diagnosis, Differential
  • Humans
  • Male
  • Mixed Function Oxygenases / genetics
  • Munchausen Syndrome / diagnosis
  • Mutation*
  • Polymorphism, Single Nucleotide
  • Vitamin K / administration & dosage*
  • Vitamin K Deficiency / congenital*
  • Vitamin K Deficiency / diagnosis
  • Vitamin K Deficiency / drug therapy
  • Vitamin K Epoxide Reductases

Substances

  • Blood Coagulation Factors
  • Vitamin K
  • Mixed Function Oxygenases
  • Vitamin K Epoxide Reductases
  • Carbon-Carbon Ligases
  • glutamyl carboxylase