INTRODUCTION Placental sulphatase deficiency/congenital ichthyosis is an X-linked inborn error of metabolism which was first described in 1969 by France and Liggins.1 It is an enzymatic defect affecting steroid metabolism, clinically manifested by diminished oestrogen production during fetal life and by congenital ichthyosis post-natally. This disorder has a reported incidence of between 1: 6,0...

Wilson's disease is an inborn error of copper metabolism that characterized by deficiency ceruloplasmin, the serum transport protein for copper. Copper collected in liver, and after hepatic binding sites are saturated, it released. Systemic then develops there abnormal accumulation brain, particularly putamen globus pallidus. Presenting this case a 32-year-old male patient who presented with pe...

Recent innovations in medical technology have changed newborn screening programs in the United States. The widespread use of tandem mass spectrometry is helping to identify more inborn errors of metabolism. Primary care physicians often are the first to be contacted by state and reference laboratories when neonatal screening detects the possibility of an inborn error of metabolism. Physicians m...