Deoxyhypusine synthase is involved in the synthesis of an unusual amino acid, hypusine, which is found in only a single protein, eukaryotypic translation initiation factor-5A (EIF5A). EIF5A promotes translation elongation, or production of many proteins. There are no known humans with mutations in EIF5A.
DHPS is a genetic condition that occurs when a change or mutation in DNA is inherited from both parents in an autosomal recessive manner, which means that both copies of the DHPS gene in each cell have a mutation. The parents of an individual with an autosomal recessive condition each carry one copy of a mutated gene, but do not show signs and symptoms of the condition.