Aarskog–Scott syndrome is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies. This condition mainly affects males, although females may have mild features of the syndrome. Signs and symptoms
People with Aarskog–Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth (philtrum), and a widows peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up with that of their peers during puberty. Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (cutaneous syndactyly), and a single crease across the palm. Other abnormalities in people with Aarskog–Scott syndrome include heart defects and a split in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate).Most males with Aarskog–Scott syndrome have a shawl scrotum, in which the scrotum surrounds the penis instead of hanging below. Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).The intellectual development of people with Aarskog–Scott syndrome varies widely. Some may have mild learning and behavior problems, while others have normal intelligence. In rare cases, severe intellectual disability has been reported. Genetics
Mutations in the FGD1 gene are the only known genetic cause of Aarskog-Scott syndrome.
Pharmacology
Mechanism of action
Ferric maltol acts as a source of iron, which is essential for oxygen transport in the blood and other processes in the human body. Pharmacokinetics
The substance is a complex of iron with maltol, which is absorbed from the gut and then dissociates, releasing iron and maltol separately into the bloodstream. Iron is bound to transferrin and reaches its highest concentrations in the blood plasma one to three hours after ingestion. It is also bound to ferritin for storage. Maltol reaches its highest plasma concentrations after 1 to 1.5 hours. It is quickly metabolized to the glucuronide by UGT1A6 and eliminated via the urine with a biological half-life of 0.7 hours. 40–60% are excreted in the glucuronidized form. History
Ferric maltol was approved for medical use in the European Union in February 2016.Ferric maltol was approved for medical use in the United States in July 2019, based on evidence from three clinical trials (trial 1, trial 2, and trial 3). All 295 participants had low iron stores in the body and consequent iron deficiency anemia. In the first two trials low iron was caused by participants inflammatory bowel disease (IBD) and in the last trial, by long standing (chronic) kidney disease.Trials were conducted at 79 sites in Europe and the United States. References
External links
"Ferric maltol". Drug Information Portal. U.S. National Library of Medicine (NLM).