Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis

LETTER TO THE EDITOR Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

1 Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany 2 Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany 3 Department of Diagnostic and Interventional Radiology, Heinrich-Heine University, Düsseldorf, Germany 4 Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children’s Hospital, Heinrich-Heine Uni...

Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations.

Mutations in the gene SURF1 prevent synthesis of cytochrome-c oxidase (COX)-specific assembly protein and result in a fatal neurological disorder, Leigh syndrome. Because this severe COX deficiency presents with barely detectable changes of cellular respiratory rates under normoxic conditions, we analyzed the respiratory response to low oxygen in cultured fibroblasts harboring SURF1 mutations w...

Okihiro syndrome is caused by SALL4 mutations.

Okihiro syndrome refers to the association of forearm malformations with Duane syndrome of eye retraction. Based on the reported literature experience, clinical diagnosis of the syndrome can be elusive, owing to the variable presentation in families reported. Specifically, there is overlap of clinical features with other conditions, most notably Holt-Oram syndrome, a condition resulting from mu...

LETTER TO THE EDITOR Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

Sir, The letter by Haack et al. (2014) provides important information confirming the role of the thiamine transporter hTHTR2 in Leigh syndrome and the beneficial effect of biotin and/or thiamine treatment for patients harbouring mutations in the gene encoding hTHTR2, SLC19A3. In recent years many new pathogenic mutations have been reported in SLC19A3 resulting in several age-related neurologica...