Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap

Molecular Genetics and Metabolism
S Harvey MuddMarlene W Borschel

Abstract

Studies were carried out to identify the cause of combined severe hypermethioninemia and moderate hyperhomocysteinemia in a cluster of 10 infants ascertained between 1999 and early 2001. Although several were thought initially to have cystathionine beta-synthase (CBS) deficiency and treated accordingly, CBS deficiency and other known genetic causes of hypermethioninemia were ruled out by assay of CBS activity in fibroblasts of four patients and by assays of plasma cystathionine and S-adenosylmethionine. Retrospective data on dietary methionine intakes and plasma concentrations of methionine and related metabolites established that the hypermethioninemia in nine of the 10 babies was related to ingestion of an infant protein hydrolysate formula, the methionine content of which had been increased from May 1998 to February 2001. The formula in question has now been reformulated and is no longer available. The 10th infant manifested similar metabolic abnormalities while receiving TPN containing excessive methionine. Brain MRI abnormalities indicative of cerebral edema, most marked in the cerebral cortex and posterior brainstem, occurred in two patients near times of extreme hypermethioninemia. Metabolic and MRI abnormalities resolve...Continue Reading

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Citations

Jul 9, 2009·Journal of Inherited Metabolic Disease·Ivo Barić
Feb 11, 2011·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·S Harvey Mudd
Mar 20, 2016·Neuroradiology·C StaufnerI Harting
May 26, 2015·The Journal of Pediatrics·Thipwimol Tim-AroonShawn E McCandless
Jun 7, 2005·Early Human Development·Yin-Hsiu ChienWuh-Liang Hwu
Sep 19, 2006·Journal of Neuroscience Methods·Francieli M StefanelloAngela T S Wyse
Aug 13, 2005·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Francieli M StefanelloAngela T S Wyse
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Apr 12, 2012·The American Journal of Clinical Nutrition·Lisha HuangJohannes B van Goudoever
Aug 21, 2004·Clinical Chemistry·Helga RefsumBengt F Kase
Feb 16, 2019·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Kenneth N MacleanSally P Stabler
Jun 13, 2020·Frontiers in Microbiology·Ziyi WangShin-Yi Lee Marzano
Dec 13, 2006·The American Journal of Clinical Nutrition·Sally P StablerMary Ann Johnson
May 17, 2006·The Journal of Nutrition·James D Finkelstein
May 17, 2006·The Journal of Nutrition·Peter J Garlick
Oct 22, 2016·Amino Acids·Bruna M Schweinberger, Angela T S Wyse
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Oct 2, 2020·The Journal of Nutrition·Sally P Stabler
Oct 2, 2020·The Journal of Nutrition·Viktor Kožich, Sally Stabler

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