title: Richner-Hanhart syndrome detected by expanded newborn screening.
abstract: Richner-Hanhart syndrome (tyrosinemia type 2) is an inborn error of tyrosine metabolism which is clinically characterized mainly by oculocutaneous symptoms including corneal opacities and keratosis palmoplantaris. Skin symptoms usually develop after the first year of life. We report a neonate in whom already on the third day of life diagnosis of Richner-Hanhart syndrome could be suspected because of elevated tyrosine levels in newborn screening by tandem mass spectrometry. Analysis of the tyrosine aminotransferase gene revealed a homozygous missense mutation p.R433W (c.1297C>T). An 8-year-old brother with persistent plantar hyperkeratotic plaques of the soles of yet unknown origin was subsequently identified to be also affected with Richner-Hanhart syndrome. This demonstrates that early diagnosis of Richner-Hanhart syndrome is possible in neonates by extended newborn screening. Early introduction of dietary treatment is a prerequisite to reduce the risk of clinical symptoms.
authors.affiliation: Department of General Pediatrics, University Children's Hospital Düsseldorf, Düsseldorf, Germany. thomas.meissner@med.uni-duesseldorf.de
authors.forename: Thomas
authors.initials: T
authors.lastname: Meissner
authors.forename: Regina Christine
authors.initials: RC
authors.lastname: Betz
authors.forename: Sandra M
authors.initials: SM
authors.lastname: Pasternack
authors.forename: Sibylle
authors.initials: S
authors.lastname: Eigelshoven
authors.forename: Thomas
authors.initials: T
authors.lastname: Ruzicka
authors.forename: Roland
authors.initials: R
authors.lastname: Kruse
authors.forename: Gitta
authors.initials: G
authors.lastname: Laitenberger
authors.forename: Ertan
authors.initials: E
authors.lastname: Mayatepek
mesh_terms: D002648:Child; D005128:Eye Diseases / Q000209:etiology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007645:Keratoderma, Palmoplantar / Q000209:etiology / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D015997:Neonatal Screening; D016133:Polymerase Chain Reaction; D012867:Skin / Q000473:pathology; D053719:Tandem Mass Spectrometry; D014443:Tyrosine / Q000097:blood*; D014444:Tyrosine Transaminase / Q000235:genetics; D020176:Tyrosinemias / Q000150:complications / Q000175:diagnosis* / Q000235:genetics
chemical_list: D014443:Tyrosine; D014444:Tyrosine Transaminase