title: Two siblings with vitamin B6-nonresponsive cystathionine beta-synthase deficiency and differing blood methionine levels during the neonatal period.
abstract: We present two siblings with vitamin B6-nonresponsive homocystinuria due to a deficiency of cystathionine beta-synthase who had different levels of methionine in the blood during the neonatal period, even though they had the same genetic defect. One of them was missed in the screening of newborns for homocystinuria. Special care should be taken in screening neonates for homocystinuria using the blood level of methionine.
authors.affiliation: Department of Pediatrics, University of Tokushima School of Medicine, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Watanabe
authors.forename: M
authors.initials: M
authors.lastname: Ito
authors.forename: E
authors.initials: E
authors.lastname: Naito
authors.forename: I
authors.initials: I
authors.lastname: Yokota
authors.forename: J
authors.initials: J
authors.lastname: Matsuda
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroda
mesh_terms: D002648:Child; D003541:Cystathionine beta-Synthase / Q000172:deficiency*; D004351:Drug Resistance; D005260:Female; D006712:Homocystinuria / Q000097:blood* / Q000175:diagnosis; D006801:Humans; D007564:Japan; D008297:Male; D008715:Methionine / Q000097:blood*; D011736:Pyridoxine / Q000494:pharmacology
chemical_list: D008715:Methionine; D003541:Cystathionine beta-Synthase; D011736:Pyridoxine