3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome in 2 siblings
| Autor: | Nuria Muñoz Jareño, Celia Pérez-Cerdá Silvestre, J Campos-Castelló, Magdalena Ugarte Pérez, Daniel Martín Fernández-Mayoralas, Begoña Merinero Cortés |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty macromolecular substances Biology Mitochondrion Glutarates 03 medical and health sciences 0302 clinical medicine Urinary excretion 030225 pediatrics Internal medicine medicine Humans Biochemical markers Muscle biopsy medicine.diagnostic_test Brain Diseases Metabolic Siblings Disease progression nutritional and metabolic diseases Infant 3-Methylglutaconic Aciduria Magnetic Resonance Imaging Endocrinology Mitochondrial abnormalities Child Preschool Pediatrics Perinatology and Child Health Female Neurology (clinical) Mitochondrial respiratory chain defects Leigh Disease 030217 neurology & neurosurgery |
| Zdroj: | Journal of child neurology. 22(2) |
| ISSN: | 0883-0738 |
| Popis: | The authors report the case of a pair of siblings with 3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome. Disease progression was monitored from birth until the present. Both patients fulfilled the diagnostic criteria for Leigh syndrome along with increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid (biochemical markers of methylglutaric acid) in several determinations. No mitochondrial respiratory chain defects in muscle biopsy were detected. Although mitochondrial abnormalities are the most common known cause of Leigh syndrome, there have been several reports of links with nonmitochondrial metabolic disorders. Descriptions of 3-methylglutaric acid type 4 associated with Leigh syndrome are rare. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|