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Here, we present a 2\u2010year\u2010old boy whose initial presentation was severe macrocytic anemia necessitating multiple blood transfusions and intermittent neutropenia; he subsequently developed ataxia and dysarthria. Trio\u2010exome sequencing detected compound heterozygous variants in <jats:italic>SLC52A2<\/jats:italic> that were classified as pathogenic and a variant of uncertain significance. Bone marrow evaluation demonstrated megaloblastic changes. Notably, his anemia and neutropenia resolved after treatment with oral riboflavin, thus expanding the clinical phenotype of this disorder. We reiterate the importance of starting riboflavin supplementation in a young child who presents with macrocytic anemia and neurological features while awaiting biochemical and genetic work up. We detected multiple biochemical abnormalities with the help of untargeted metabolomics analysis associated with abnormal flavin adenine nucleotide function which normalized after treatment, emphasizing the reversible pathomechanisms involved in this disorder. The utility of untargeted metabolomics analysis to monitor the effects of riboflavin supplementation in RTD has not been previously reported.<\/jats:p>","DOI":"10.1002\/ajmg.a.61851","type":"journal-article","created":{"date-parts":[[2020,9,27]],"date-time":"2020-09-27T09:14:03Z","timestamp":1601198043000},"page":"2781-2787","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2943-2136","authenticated-orcid":false,"given":"Nishitha R.","family":"Pillai","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hitha","family":"Amin","sequence":"additional","affiliation":[{"name":"Texas Children's Hospital  Houston Texas USA"},{"name":"Department of Neurology Baylor College of Medicine  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charul","family":"Gijavanekar","sequence":"additional","affiliation":[{"name":"Baylor Genetics  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ning","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niveen","family":"Issaq","sequence":"additional","affiliation":[{"name":"Department of Pathology and Immunology Baylor College of Medicine  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarzyna A.","family":"Broniowska","sequence":"additional","affiliation":[{"name":"Metabolon Inc.  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