Our proband’s phenotype comprising severe fat soluble vitamin deficiencies, acanthocytosis, undetectable LDL-C and TG, and history of malabsorption pointed to either ABL or homozygous FHBL; that 8 rare and potentially deleterious mutations in candidate genes were discovered presented an interesting diagnostic challenge. The gene discussed is MTTP; the disease is Constitutional hemolytic anemia due to acanthocytosis.