Spondylocostal dysostosis associated with methylmalonic aciduria

Genet Test Mol Biomarkers. 2009 Apr;13(2):181-3. doi: 10.1089/gtmb.2008.0069.

Abstract

Spondylocostal dysostosis (SCD) is a genetic disorder characterized by vertebral segmentation and formation defects associated with changes of the ribs. Autosomal dominant and recessive modes of inheritance have been reported. Methylmalonic aciduria (MMA) is an inborn error of propionate or cobalamin metabolism. It is an autosomal recessive disorder and one of the most frequent forms of branched-chain organic acidurias. Here we report on a case of a Brazilian boy with both diseases. As we know, it is the first case in the literature with the occurrence of both SCD and MMA--the first a skeletal disease and the latter an inborn error of metabolism.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / drug therapy
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Carnitine / administration & dosage
  • Cervical Vertebrae / diagnostic imaging
  • Cervical Vertebrae / pathology
  • Child
  • Codon, Nonsense
  • Dysostoses / genetics*
  • Exons
  • Genes, Recessive
  • Homozygote
  • Humans
  • Lumbar Vertebrae / diagnostic imaging
  • Lumbar Vertebrae / pathology
  • Male
  • Membrane Transport Proteins / genetics*
  • Membrane Transport Proteins / urine
  • Mitochondrial Membrane Transport Proteins
  • Mitochondrial Proteins / genetics*
  • Mitochondrial Proteins / urine
  • Radiography
  • Ribs / diagnostic imaging
  • Ribs / pathology
  • Thoracic Vertebrae / diagnostic imaging
  • Thoracic Vertebrae / pathology
  • Treatment Outcome
  • Vitamin B 12 / administration & dosage

Substances

  • Codon, Nonsense
  • MMAA protein, human
  • Membrane Transport Proteins
  • Mitochondrial Membrane Transport Proteins
  • Mitochondrial Proteins
  • Vitamin B 12
  • Carnitine