The publishers wish to apologise for the misprinting of the nucleotide changes involved in the ROM1 amino acid substitutions presented in the above paper. The correct nucleotide change for each mutation is given below. P60T (CCT↑ACT) T108M (ACG↑ATG) G75D (GGC↑GAC) R242Q (CGA↑CAA)
This review draws the attention of neonatologists and pediatricians to recently described, important hereditary metabolic disorders that may present in early infancy. It also reports new information on more familiar conditions. The discussion is divided into four areas: 1) defects of the electron transport chain; 2) the peroxisomal disorders; 3) inborn errors of small molecules that cause congenital malformations; and 4) several other recently identified metabolic diseases, namely the blood-brain barrier glucose transport defect, disorders of bile acid synthesis, and the carbohydrate-deficient glycoprotein syndrome. Several of these inborn errors illustrate new pathophysiologic principles. Clinical recognition of these conditions is critical to proper management of both the infant, for whom effective specific treatment may be available, and the family, who must be made aware of the genetic implications of the disease.
Substantial amounts of tetrahydrobiopterin and 6-methyltetrahydropterin can be detected in CSF when these pterins are given peripherally to patients with hyperphenylalaninemia due to defective biopterin synthesis. Results of this study suggest that administration of either of these pterins in proper doses may prove to be a treatment not only for the impaired peripheral phenylalanine metabolism, but also for the neurologic disorders that are characteristic of the variant forms of hyperphenylalaninemia due to defective tetrahydrobiopterin synthesis or metabolism.
Journal Article Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation Get access Roger A. Bascom, Roger A. Bascom 1Department of Genetics, Research Institute, The Hospital for Sick Children555 University Ave., Toronto, Ontario M5G 1X82Department of Molecular and Medical Genetics, University of TorontoToronto, Ontario M5S 1A8, Canada Search for other works by this author on: Oxford Academic PubMed Google Scholar Keith Schappert, Keith Schappert 1Department of Genetics, Research Institute, The Hospital for Sick Children555 University Ave., Toronto, Ontario M5G 1X8 Search for other works by this author on: Oxford Academic PubMed Google Scholar Roderick R. Mclnnes Roderick R. Mclnnes * 1Department of Genetics, Research Institute, The Hospital for Sick Children555 University Ave., Toronto, Ontario M5G 1X82Department of Molecular and Medical Genetics, University of TorontoToronto, Ontario M5S 1A8, Canada *Department of Genetics, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8 Canada Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 2, Issue 4, April 1993, Pages 385–391, https://doi.org/10.1093/hmg/2.4.385 Published: 01 April 1993 Article history Received: 17 December 1992 Revision received: 28 January 1993 Accepted: 28 January 1993 Published: 01 April 1993
