A case of mitochondrial DNA depletion syndrome type 11 - expanding the genotype and phenotype.

Mitochondrial DNA depletion syndrome type 11 (MTDPS11) is caused by pathogenic variants in MGME1 gene. We report a woman, 40-year-old, who presented slow progressive drop eyelid at 11-year-old with, learning difficulty and frequent falls. Phisical examination revealed: mild scoliosis, elbow hyperextensibility, flat feet, chronic progressive external ophthalmoplegia with upper eyelid ptosis, diffuse hypotonia, and weakness of arm abduction and neck flexion. Investigation evidenced mild serum creatine kinase increase and glucose intolerance; second-degree atrioventricular block; mild mixed-type respiratory disorder and atrophy and granular appearance of the retinal pigment epithelium. Brain magnetic resonance showed cerebellar atrophy. Muscle biopsy was compatible with mitochondrial myopathy. Genetic panel revealed a homozygous pathogenic variant in the MGME1 gene, consistent with MTDPS11 (c.862C>T; p.Gln288*). This case of MTDPS11 can contribute to the phenotypic characterization of this ultra-rare mitochondrial disorder, presenting milder respiratory and nutritional involvement than the previously reported cases, with possible additional features.

Lactato basal sanguíneo em indivíduos não diabéticos e diabéticos: mensuração por meio de tiras / Basal blood lactate in non-diabetics and diabetics’ patients: measurementby means of test-strip method

Lactato resulta da glicólise anaeróbica e sua dosagem é usualmente realizada após coleta de sangue venoso. Não há relatos de valores de referência para mensuração por meio de fitas após uso de lancetas na extremidade do dedo. O objetivo principal do estudo é mensurar o lactato sanguíneo por meio de fitas em voluntários normais e em diabéticos. Foram constituídos 2 grupos: normal, composto por 69 voluntários sadios, com média de idade de 41,3 ± 17,5 anos (15 a 86), 27 masculino e 42 feminino, e diabéticos, composto por 31 doentes, com média de idade de 52,1 ± 14,8 anos (13 a 76), 10 masculino e 21 feminino. Gota de sangue após jejum de 12 horas foi colocada em fita e os valores do lactato e glicose mensurados em aparelhos portáteis, Accutrend® Lactate e Accutrend® GCT . No grupo normal o lactato sanguíneo foi 2,7 ± 0,95 mmol/L (1,0 a 5,2), com limite superior de normalidade de 4,6 mmol/L (95%). No grupo de diabéticos foi 3,94 ± 1,27 mmol/L (1,7 a 7,0). Houve diferença estatisticamente significativa entre os grupos (P<0,0001) e não foi encontrada correlação entre os níveis de glicose e lactato em ambos os grupos. Os valores de referência de lactato sanguíneo mensurado por meio de fitas foram mais elevados e tiveram maior variação em relação à dosagem usual; indivíduos diabéticos tem nível sanguíneo mais elevado em relação aos normais, mas sem correlação com o nível glicêmico.

Lactate results from anaerobic glycolysis, and it is usually measured after a vein puncture. There are noknown reports on reference values for lactate measure through strips after a blood drop from digit. The main purpose of the study is to get reference values for blood lactate using strips in normal subjects and patients with diabetes. Two groups were constituted: control with 69 health subjects with mean age of41.3 ± 17.5 years (15 - 86), 42 females and 27 males, and 32 patients with diabetes melito with mean age of52.1 ± 14.8 years (13 - 76), 21 females and 10 males. Blood lactate and glucose were measured after 12 hour-fasting through a blood drop on a strip for immediate reading on portable Accutrend® Lactate and Accutrend® GCT. Control group: lactate 2.7 ± 0.95 mmol/L (1.0 - 5.2) and upper limit of normality 4.6mmol/L (95%). Diabetic group: lactate 3.94 ± 1.27 mmol/L (1.7 - 7.0). There was a significant difference between groups (P<0.0001) and there was no correlation between lactate and glucose values in bothgroups. The reference values of blood lactate measured by the test-strip method were higher and had a greater variation from the usual dosage; diabetics’ patients have higher blood levels compared to normal ones, but no correlation with the glucose level.