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.
Translated title of the contribution | Neonatal convulsions in a patient with a mitochondrial defect |
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Original language | Dutch |
Pages (from-to) | 367-369 |
Number of pages | 3 |
Journal | Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde |
Volume | 28 |
Issue number | 6 |
State | Published - Nov 2003 |
Keywords
- Casuistic
- Inborn error of metabolism
- Inherited metabolic disease
- Neonatal convulsions: OXPHOS-system
- OGLT
- Serum alanine
ASJC Scopus subject areas
- Clinical Biochemistry
- Biochemistry, medical