During organic acid screening by gas chromatography/mass spectrometry, we detected a large peak corresponding to glyceric acid in a patient's urine sample. The D(+) configuration was demonstrated by a polarimetric method and by enzymatic stereospecificity of D-glycerate dehydrogenase (EC 1.1.1.29). We biochemically investigated this fifth reported case of D-glyceric acidemia. In our patient, lo...

Methylmalonic acidemia (MMA) is usually caused by a deficiency of the enzyme methylmalonyl-CoA mutase (MCM), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, cblC, cblF, cblD, and cblX), or deficiency of the enzyme methylmalonyl-CoA epimerase. A comprehensive diagnostic approach involves investigations of metabolites with tandem mass spectrometry, organic ...

Pyroglutamic acidemia, a rare metabolic disorder, usually appears in infancy. It is characterized by retardation, ataxia, hemolytic anemia, and chronic acidosis and is caused by a marked deficiency of glutathione synthetase (EC 6.3.2.3) activity. This disease is inherited as an autosomal recessive trait, but the clinical condition is also detected in heterozygotes. We report an unusual case of ...

Glutaric Aciduria type I (GA-I) is a rare organic acidemia, caused by mutations in the GCDH gene, and characterized by encephalopathic crises with neurological sequelae. We report herein a patient with GA-I who presented with severe acute renal failure requiring dialysis, following an acute diarrheal illness. Histopathological evaluation demonstrated acute tubular necrosis, and molecular diagno...

In 2015, FIGO revised the 1987 intrapartum cardiotocography (CTG) classification (FIGO1987). A less radical FIGO2015 version was introduced in Sweden 2017 (SWE2017). Now, post hoc simulation studies show that and SWE2017 are reliable than (a modified) FIGO1987. shows significantly better interobserver agreement for normal CTG traces FIGO1987, but worse pathological traces. Agreements between te...

Background: Urinary organic acids are water-soluble intermediates and end products of the metabolism of amino acids, carbohydrates, lipids, and a number of other metabolic processes. In the hereditary diseases known as organic acidurias, an enzyme or co-factor defect in a metabolic pathway leads to the accumulation and increased excretion of one or more of these acidic metabolites. Gas chromato...

Recurrent acute pancreatic attacks is a rare clinical condition (2-5% of all acute pancreatis) in children and is mainly idiopathic in most cases. Sometimes it may be associated with congenital anomalies, metabolic diseases or hereditary conditions. Isovaleric acidemia (IVA) is a rare autosomal recessive amino acid metabolism disorder associated with isovaleryl coenzyme A dehydrogenase deficien...

Objective. The improvement of the accuracy of fetal heart rate (FHR) pattern interpretation to improve perinatal outcomes remains an elusive challenge. We examined the impact of an FHR centralization system on the incidence of neonatal acidemia and cesarean births. Methods. We performed a regional, population-based, before-and-after study of 9,139 deliveries over a 3-year period. The chi-square...

Lactic acidemia is one manifestation of the mitochondrial diseases caused by pathogenic mutant mitochondrial DNA (mtDNA). However, little is known about its chronic effects in the progression of mitochondrial disease phenotypes. To obtain experimental evidence on this point, we used trans-mitochondrial model mice (mito-mice) heteroplasmic for wild-type and deleted mtDNA (DeltamtDNA). Mito-mice ...