title: Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.
abstract: We describe two siblings with a Sengers-like syndrome, who presented with congenital hypertrophic cardiomyopathy, infantile cataract, mitochondrial myopathy, lactic acidosis and normal mental development. A mitochondrial adenine nucleotide translocator 1 (ANT1) defect was detected since the ANT1 protein was not detectable by immmunoblotting in muscle samples of the patients. Additionally to these features of classical Sengers syndrome (OMIM 212350), we found that the mitochondrial oxidative phosphorylation, measured by biochemical analysis, was severely compromised in skeletal muscle in both children. Biochemical and morphological analysis of the fibroblasts revealed normal results. The association of significantly decreased pyruvate oxidation rates, deficient energy production and decreased multiple mitochondrial enzyme-complex activities in the muscle samples of our patients is a new finding which differs from previous results in patients with Sengers syndrome.
  
  
  CONCLUSIONS
  we recommend a muscle biopsy and the biochemical analysis of the oxidative phosphorylation system in patients with muscle hypotonia, cardiomyopathy and congenital or infantile cataract.
authors.affiliation: Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, University Medical Centre Nijmegen, Nijmegen, The Netherlands. E.Morava@cukz.umcn.nl
authors.forename: Eva
authors.initials: E
authors.lastname: Morava
authors.forename: Rob
authors.initials: R
authors.lastname: Sengers
authors.forename: Henk
authors.initials: H
authors.lastname: Ter Laak
authors.forename: Lambert
authors.initials: L
authors.lastname: Van Den Heuvel
authors.forename: Antoon
authors.initials: A
authors.lastname: Janssen
authors.forename: Frans
authors.initials: F
authors.lastname: Trijbels
authors.forename: Hans
authors.initials: H
authors.lastname: Cruysberg
authors.forename: Carolien
authors.initials: C
authors.lastname: Boelen
authors.forename: Jan
authors.initials: J
authors.lastname: Smeitink
mesh_terms: D000140:Acidosis, Lactic / Q000150:complications; D033741:Adenine Nucleotide Translocator 1 / Q000172:deficiency; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000150:complications*; D002386:Cataract / Q000150:complications* / Q000151:congenital*; D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D017240:Mitochondrial Myopathies / Q000150:complications* / Q000378:metabolism; D010085:Oxidative Phosphorylation; D035781:Siblings; D013577:Syndrome
chemical_list: D033741:Adenine Nucleotide Translocator 1