ABSTRACT
Dihydropyrimidine dehydrogenase (DPD) deficiency (McKusick 274270) is a clinically heterogeneous autosomal recessive disorder of pyrimidine metabolism. DPD is the enzyme that catalyses the first and the rate-limiting step in the catabolism of uracil, thymine and the analogue 5-fluorouracil. To date, more than 30 patients have been diagnosed with a complete enzyme deficiency. Here, we describe the fifth case with a complete DPD deficiency presenting at birth with severe neurological abnormalities. The patient was homozygous for the common splice-site mutation IVS14+1G > A.
Subject(s)
Dihydropyrimidine Dehydrogenase Deficiency , Purine-Pyrimidine Metabolism, Inborn Errors/diagnosis , Age of Onset , Antimetabolites/metabolism , Binding Sites , Digestive System Abnormalities/etiology , Female , Fluorouracil/pharmacology , Genes, Recessive , Heterozygote , Homozygote , Humans , Infant, Newborn , Muscular Diseases/etiology , Mutation , Thymine/chemistry , Thymine/urine , Uracil/chemistry , Uracil/urineABSTRACT
We report a patient with terminal transverse limb defects associated with persistent primitive aorto-pulmonary vascular connections leading to supra-systemic pulmonary artery pressure. It is likely that this patient represents a vascular disruption sequence or as an alternative a form of Adams-Oliver syndrome. These assumptions are based only on the association of vascular abnormalities as an emerging and apparently important association with transverse limb defects despite the absence of aplasia cutis congenita commonly associated with Adams-Oliver syndrome.
