Some of the clinical features together with ataxia can suggest inherited metabolic disorders such as hepatosplenomegaly (lysosomal storage disorders), cardiomyopathy (lysosomal storage disorders, mitochondrial disorders, congenital disorders of glycosylation (CDG)), complex movement disorders (mitochondrial disorders, organic acidurias, neurotransmitter disorders), macrocephaly (Canavan disease, lysosomal storage disorders), or microcephaly (glucose transporter 1 (GLUT1) deficiency, neuronal ceroid lipofuscinosis ((NCL)). The gene discussed is SLC2A1; the disease is lysosomal storage disease.