White Matter Changes in GM1 Gangliosidosis.

Background: GM1 gangliosidosis is a disorder due to GLB1 gene mutation. Case characteristics: A 4-yr-old boy with neuroregression and optic atrophy with periventricular hyperintensity on magnetic resonance imaging. Outcome: Beta galactosidase enzyme activity was low which was confirmed by GLB1 sequencing. Message: We highlight the white matter changes in late infantile GM1 gangliosidosis.

Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type.

We report on a girl with methylmalonic acidemia, cblA type with a novel homozygous mutation and describe the clinical phenotype and response to therapy.