Publications by authors named "Gurnoor Lail"
We describe the case of a 19-month-old girl presenting with gross motor delays, hypotonia, diminished deep tendon reflexes, hyperCKaemia, extensive white matter changes on MRI brain, and electromyography studies consistent with myopathy. The differential diagnosis for infantile-onset hypotonia and muscle weakness is broad. It includes numerous subtypes of genetic disorders, including congenital muscular dystrophies, congenital myopathies, congenital myasthenic syndromes, spinal muscular atrophy, single-gene genetic syndromes, and inborn errors of metabolism.
View Article and Find Full Text PDFAn unusually mild case of biotin-thiamine-responsive basal ganglia disease.
Mol Genet Metab Rep
December 2023
Background: Biotin-Thiamine-Responsive Basal Ganglia Disease (BTBGD) is a treatable neurometabolic condition associated with pathogenic variants in the gene. The classical childhood-onset phenotype presents at a mean age of 4 years, ranging from birth to 12 years. These patients present with subacute encephalopathy, dysarthria, dysphagia, dystonia, external ophthalmoplegia, seizures, quadriparesis, and even death.
View Article and Find Full Text PDFArticle Synopsis
- PGM1-CDG is a rare genetic metabolic disorder caused by a deficiency of the PGM1 enzyme, leading to various health issues, including liver and cardiac problems, hypoglycemia, and muscle breakdown.
- The treatment of this condition involves oral D-galactose (D-gal) supplementation, which has shown clinical improvement in several patients, although results can vary significantly.
- Despite some successes with D-gal, challenges remain, particularly regarding cardiac function, highlighting the need for new therapeutic strategies to address this aspect of PGM1-CDG.