LDH-A deficiency (LDHA deficiency, glycogenosis storage disease [GSD] type XI; OMIM#612933) is an autosomal recessive disorder caused by pathogenic mutations in the LDHA, a gene that contains seven exons and spans approximately 12 kb in 11p15.1. The gene discussed is LDHA; the disease is hyperinsulinemic hypoglycemia, familial, 4.