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Titolo:
Infantile presentation of the mtDNA A3243G tRNA(Leu(UUR)) mutation
Autore:
Okhuijsen-Kroes, EJ; Trijbels, JMF; Sengers, RCA; Mariman, E; van den Heuvel, LP; Wendel, U; Koch, G; Smeitink, JAM;
Indirizzi:
Univ Nijmegen, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, Med Ctr,Nijmegen, Netherlands Univ Nijmegen Nijmegen Netherlands ediat, Med Ctr,Nijmegen, Netherlands Univ Hosp, Dept Pediat, Dusseldorf, Germany Univ Hosp Dusseldorf Germany niv Hosp, Dept Pediat, Dusseldorf, Germany Gen Hosp, Hagen, Germany Gen Hosp Hagen GermanyGen Hosp, Hagen, Germany
Titolo Testata:
NEUROPEDIATRICS
fascicolo: 4, volume: 32, anno: 2001,
pagine: 183 - 190
SICI:
0174-304X(200108)32:4<183:IPOTMA>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN SKELETAL-MUSCLE; COMPLEX-I DEFICIENCY; LACTIC-ACIDOSIS; MITOCHONDRIAL-DNA; EPISODES MELAS; GENE; ENCEPHALOPATHY; ENCEPHALOMYOPATHIES; MYOPATHY; PHENOTYPE;
Keywords:
A3243G mutation; infantile; mitochondrial encephalomyopathy; OXPHOS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
33
Recensione:
Indirizzi per estratti:
Indirizzo: Smeitink, JAM Univ Nijmegen, Nijmegen Ctr Mitochondrial Disorders, Childrens Hosp, Med Ctr, POB 9101, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen POB 9101 Nijmegen Netherlands NL-6500 HB ands
Citazione:
E.J. Okhuijsen-Kroes et al., "Infantile presentation of the mtDNA A3243G tRNA(Leu(UUR)) mutation", NEUROPEDIAT, 32(4), 2001, pp. 183-190

Abstract

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 (FFT) 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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Documento generato il 01/06/20 alle ore 00:28:28