Related Experiment Video
Updated: Apr 14, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
Published on: October 10, 2025
Different presentations of mevalonate kinase deficiency: a case series
Carlo De Pieri1, Andrea Taddio2, Antonella Insalaco3
1Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
Objectives:
We aimed to raise awareness among paediatricians and physicians about this often misunderstood condition.
Methods:
We discussed the clinical profiles associated with late or wrong diagnosis of mevalonate kinase deficency (MKD) in a single centre case series.
Results:
We analysed the most common challenges and pitfalls that a clinician might face during the diagnostic process. Five main clinical profiles were characterised.
Conclusions:
We propose a new perspective on MKD, suggesting that the presentation of this disease can vary from patient to patient.
More Related Videos
06:53Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry
Published on: November 23, 2011
03:45Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Related Concept Videos
Inborn Errors of Metabolism
Mitral Stenosis II: Clinical features and Diagnostic Tests
Animal Mitochondrial Genetics
Mitral Stenosis I: Introduction
Mitral Stenosis III: Medical Management
Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test