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

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.

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...

Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review

Solute carrier family 19 (thiamine transporter), member 3 (SCL19A3) gene defect produces an autosomal recessive neurodegenerative disorder associated with different phenotypes and acronyms. One of the common presentations is early infantile lethal Leigh-like syndrome. We report a case of early infantile Leigh-like SLC19A3 gene defects of patients who died at 4 months of age with no response to ...

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...