A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION

Genet Couns. 2016;27(4):509-512.

Abstract

GRACILE Syndrome, is an autosomal recessive disease presenting with growth retardation, severe lactic acidosis, Fanconi type tubulopathy, cholestasis, iron overload and early death without any dysmorphological or neurological features. The BCSIL gene mutation is responsible for GRACILE syndrome, Bjornstad syndrome and complex III deficiency. Bjomstad syndrome is characterized by sensorineural hearing loss and abnormal flat twisted hair shafts. The case is GRACILE syndrome with Bjomstad phenotype in neonatal period due to BCSL1 gene mutation.

Publication types

  • Case Reports

MeSH terms

  • ATPases Associated with Diverse Cellular Activities / genetics*
  • Acidosis / diagnosis
  • Acidosis / genetics
  • Acidosis, Lactic / diagnosis
  • Acidosis, Lactic / genetics*
  • Cholestasis / diagnosis
  • Cholestasis / genetics*
  • Consanguinity
  • DNA Mutational Analysis*
  • Electron Transport Complex III / genetics*
  • Fatal Outcome
  • Fetal Growth Retardation / diagnosis
  • Fetal Growth Retardation / genetics*
  • Hair Diseases / diagnosis
  • Hair Diseases / genetics*
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Hemosiderosis / diagnosis
  • Hemosiderosis / genetics*
  • Homozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / genetics*
  • Mitochondrial Diseases / congenital*
  • Mitochondrial Diseases / diagnosis
  • Mitochondrial Diseases / genetics
  • Phenotype*
  • Renal Aminoacidurias / diagnosis
  • Renal Aminoacidurias / genetics*
  • Turkey

Substances

  • BCS1L protein, human
  • ATPases Associated with Diverse Cellular Activities
  • Electron Transport Complex III

Supplementary concepts

  • Bjornstad syndrome
  • Finnish lethal neonatal metabolic syndrome