Literature DB >> 8194560

Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency.

R P Beekman1, N Hofstee, J A Smeitink, B T Poll-The, M Duran.   

Abstract

A female patient with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency developed normally until 13 months of age after which she showed a gradual developmental delay, followed by progressive dementia, and a decrease in head circumference growth culminating in the diagnosis of Rett syndrome at 3.5 years.

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Year:  1994        PMID： 8194560     DOI： 10.1007/bf01954516

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  11 in total

1.  Rett syndrome and mitochondrial enzyme deficiencies.

Authors:  S B Coker; A R Melnyk
Journal:  J Child Neurol       Date:  1991-04       Impact factor: 1.987

2.  Diagnosis of medium-chain acyl-CoA dehydrogenase deficiency in lymphocytes and liver by a gas chromatographic method: the effect of oral riboflavin supplementation.

Authors:  M Duran; C B Cleutjens; D Ketting; L Dorland; J B de Klerk; F J van Sprang; R Berger
Journal:  Pediatr Res       Date:  1992-01       Impact factor: 3.756

3.  An acyl-coenzyme A dehydrogenase assay utilizing the ferricenium ion.

Authors:  T C Lehman; D E Hale; A Bhala; C Thorpe
Journal:  Anal Biochem       Date:  1990-05-01       Impact factor: 3.365

4.  Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group.

Authors: 
Journal:  Ann Neurol       Date:  1988-04       Impact factor: 10.422

Review 5.  Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects.

Authors:  Y Matsubara; K Narisawa; K Tada
Journal:  Eur J Pediatr       Date:  1992-03       Impact factor: 3.183

6.  Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.

Authors:  M Duran; M Hofkamp; W J Rhead; J M Saudubray; S K Wadman
Journal:  Pediatrics       Date:  1986-12       Impact factor: 7.124

7.  Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli.

Authors:  N Gregersen; B S Andresen; P Bross; V Winter; N Rüdiger; S Engst; E Christensen; D Kelly; A W Strauss; S Kølvraa
Journal:  Hum Genet       Date:  1991-04       Impact factor: 4.132

8.  A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases.

Authors:  B Hagberg; J Aicardi; K Dias; O Ramos
Journal:  Ann Neurol       Date:  1983-10       Impact factor: 10.422

Review 9.  Medium chain acyl-CoA dehydrogenase deficiency.

Authors:  E H Touma; C Charpentier
Journal:  Arch Dis Child       Date:  1992-01       Impact factor: 3.791

10.  Abnormal mitochondria in the Rett syndrome.

Authors:  O Eeg-Olofsson; A G al-Zuhair; A S Teebi; M M al-Essa
Journal:  Brain Dev       Date:  1988       Impact factor: 1.961
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  1 in total

1.  Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.

Authors:  B S Andresen; S F Dobrowolski; L O'Reilly; J Muenzer; S E McCandless; D M Frazier; S Udvari; P Bross; I Knudsen; R Banas; D H Chace; P Engel; E W Naylor; N Gregersen
Journal:  Am J Hum Genet       Date:  2001-05-08       Impact factor: 11.025
  1 in total

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