Late-onset methylmalonic acidemia and homocysteinemia.

Introduction: cobalamin C (Cbl C) deficiency is the most common defect in intracellular cobalamin metabolism, associated with methylmalonic acidemia and homocystinuria. Its late clinical presentation is heterogeneous and may lead to a diagnostic delay. Case report: we report the case of a 45-year-old man with a 20-year history of chronic kidney disease and recently diagnosed spastic paraparesis, both of unknown origin.

[New reliable methods for the diagnose of protein-energy wasting in hemodialysis patients].

Background: Protein-energy wasting (PEW), defined as the body loss of muscle mass and fat, is an important cardiovascular risk factor in dialysis patients. Diagnosing this condition requires the presence of three characteristics: biochemical (low albumine, prealbumine or cholesterol), body mass reduction (body mass index, weight loss or fat loss) and muscle mass reduction (measured by means of creatinine or arm muscle area). This study aimed at demonstrating that the lean tissue index (LTI) calculated by spectroscopic bioimpedance (SBI) is a valid parameter for the diagnostic of protein-energy wasting.