Publication year
2001Source
Neuropediatrics, 32, 4, (2001), pp. 183--90ISSN
Publication type
Article / Letter to editor

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Organization
Paediatrics - OUD tm 2017
Human Genetics
Journal title
Neuropediatrics
Volume
vol. 32
Issue
iss. 4
Page start
p. 183-
Page end
p. 90
Subject
Inborn errors of metabolism; Disturbances in biochemical and functional development of the kidney during childhood.; Erfelijke stofwisselingsziekten; Stoornissen in de biochemische en functionele ontwikkeling van de nier op kinderleeftijdAbstract
Mitochondrial DNA (mtDNA) disorders are clinically very heterogeneous, ranging from single organ involvement to severe multisystem disease. One of the most frequently observed mtDNA mutations is the A-to-G transition at position 3243 of the tRNA(Leu (UUR)) gene. This mutation is often related to MELAS syndrome. However, not all patients with the A3243G mutation share the same clinical disease expression and, on the contrary, patients clinically exhibiting MELAS syndrome may have other mtDNA mutations. Here we describe two patients with a very early infantile presentation of disease associated with the A3243G mutation. Patient 1 presented with hypotonia, feeding difficulties and failure to thrive (FTT) at the age of 3 months. Laboratory investigations showed persistent hyperlactic acidemia, elevated lactate/pyruvate ratios and elevated alanine concentrations in blood. Developmental delay was progressive and he developed cardiomyopathy and seizures. Death occurred at the age of 3.5 years. Patient 2 was born prematurely and had persistent, severe lactic acidosis from birth on. Moderate biventricular hypertrophy was seen on ultrasound studies of the heart and, suffering from progressive lactic acidosis, he died at the age of 13 days. Because of the rarity of this very early presentation, we searched the literature for other infantile cases associated with the A3243G mutation and found 8 additional ones. In infants presenting with lactic acidosis/hyperlactic acidemia, failure to thrive, hypotonia, seizures and/or cardiomyopathy, mtDNA mutational analysis, also for the disease entities, usually only observed in juveniles or adults is warranted.
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- Faculty of Medical Sciences [80017]
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