Literature DB >> 9427142

Cerebral metabolic changes in biotinidase deficiency.

M Schürmann1, V Engelbrecht, K Lohmeier, H G Lenard, U Wendel, J Gärtner.   

Abstract

Clinical and metabolic changes in the central nervous system are described in a patient with biotinidase deficiency before and after biotin treatment. Lactate, pyruvate and 3-hydroxyisovaleric acid as metabolic disease markers were measured in blood, cerebrospinal fluid and brain tissue by biochemical analyses or localized magnetic resonance proton spectroscopy. The patient improved markedly with biotin treatment. Nevertheless, neurological sequelae and abnormal intracerebral lactate concentrations persisted despite normalized metabolic disease markers in extracerebral fluids. Therefore, localized in vivo measurements of intracerebral metabolites may be a valuable tool for elucidating the pathogenesis of biotinidase deficiency.

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Year:  1997        PMID： 9427142     DOI： 10.1023/a:1005307415289

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  16 in total

1.  Comparison of patients with complete and partial biotinidase deficiency: biochemical studies.

Authors:  T M Suormala; E R Baumgartner; H Wick; S Scheibenreiter; S Schweitzer
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

Review 2.  Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature.

Authors:  A J Michalski; G T Berry; S Segal
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

3.  Cerebrospinal fluid organic acids in biotinidase deficiency.

Authors:  M Duran; E R Baumgartner; T M Suormala; L Bruinvis; L Dorland; J A Smeitink; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

4.  Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency.

Authors:  H D Bakker; M Westra; W C Overweg-Plandsoen; G van Waveren; J H Sillevis Smitt; N G Abeling; R J Wanders; R B Schutgens; A H van Gennip
Journal:  Eur J Pediatr       Date:  1994-11       Impact factor: 3.183

Review 5.  Clinical applications of magnetic resonance spectroscopy.

Authors:  B Ross; T Michaelis
Journal:  Magn Reson Q       Date:  1994-12

6.  Biotinidase deficiency: presymptomatic treatment.

Authors:  S J Wallace
Journal:  Arch Dis Child       Date:  1985-06       Impact factor: 3.791

7.  Independence of blood and cerebrospinal fluid lactate.

Authors:  J B Posner; F Plum
Journal:  Arch Neurol       Date:  1967-05

8.  Rat as a potential model for hearing loss in biotinidase deficiency.

Authors:  L P Rybak; C Whitworth; V Scott; A D Weberg; B Bhardwaj
Journal:  Ann Otol Rhinol Laryngol       Date:  1991-04       Impact factor: 1.547

9.  Age-dependent changes in localized proton and phosphorus MR spectroscopy of the brain.

Authors:  M S van der Knaap; J van der Grond; P C van Rijen; J A Faber; J Valk; K Willemse
Journal:  Radiology       Date:  1990-08       Impact factor: 11.105

10.  Biotinidase in the porcine cerebrum.

Authors:  J Oizumi; K Hayakawa
Journal:  Arch Biochem Biophys       Date:  1990-05-01       Impact factor: 4.013
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  2 in total

1.  Epilepsy in biotinidase deficiency after biotin treatment.

Authors:  Salvador Ibáñez Micó; Rosario Domingo Jiménez; Eduardo Martínez Salcedo; Helena Alarcón Martínez; Alberto Puche Mira; Carlos Casas Fernández
Journal:  JIMD Rep       Date:  2011-11-04

2.  Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients.

Authors:  Shrinivas Desai; Karthik Ganesan; Anaita Hegde
Journal:  Pediatr Radiol       Date:  2008-06-11
  2 in total

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