Neonatale convulsies in een patiënt met een mitochondrieel defect

Translated title of the contribution: Neonatal convulsions in a patient with a mitochondrial defect

Eva Morava-Kozicz, M. Kleuver, C. C.A. Boelenk, A. Janssen, J. A.M. Smeitink

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

Defects in the OXPHOS-system result in an extremely variable clinical picture, mainly in devastating, multi-system diseases. An increased level of lactic acid and alanine in serum are characteristic. The biochemical analysis of the different enzymes involved in de respiratory chain is performed in a muscle biopsy and fibroblast culture of the patients. In a case report we describe a patient with neonatal convulsions, progressive microcephaly and encephalopathy. Lactic acid was normal in serum; however, increased lactic acid and alanine levels were detected during an oral glucose-loading test. Biochemical studies detected low substrate-oxidation rates and decreased ATP production from pyruvic acid in a muscle biopsy sample. The activity of the PDHc E1 was decreased as well. We suggest a glucose-loading test in all patients with neonatal convulsions without a definite etiology.

Original languageDutch
Pages (from-to)367-369
Number of pages3
JournalNederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde
Volume28
Issue number6
StatePublished - Nov 1 2003
Externally publishedYes

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Keywords

  • Casuistic
  • Inborn error of metabolism
  • Inherited metabolic disease
  • Neonatal convulsions: OXPHOS-system
  • OGLT
  • Serum alanine

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical

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