Characterizing the Biotinidase Deficiency in a Child When Considering a Possible Disease Association

Characterizing the Biotinidase Deficiency in a Child When Considering a Possible Disease Association Letters to the Editor J Pediatr Hematol Oncol Volume 40, Number 1, January 2018 marrow failure disorders, following recommend treating children with Characterizing the acquired aplastic anemia, and as partial biotinidase deficiency with 8 4 familial MDS. Association of Kline- biotin. Partial biotinidase deficiency Biotinidase Deficiency felter syndrome and MDS has been appears to be more common than in a Child When reported in only a few patients and all profound biotinidase deficiency, and of these patients were adults and none children with partial deficiency usually 4–7 Considering a of them underwent HSCT. Inter- become symptomatic when stressed by estingly, in our case MDS developed an infection. Possible Disease in childhood and he was successfully In addition, the authors should treated with HSCT. not group clinical features found in Association other metabolic diseases together with another specific metabolic disease, such as biotinidase deficiency, when To the Editor: Esra Serdarog˘ lu, MD, PhD* 1 posing possible disease associations. Infinger et al reported a dysem- Baris Kuskonmaz, MDw The metabolic disorders are entirely bryoplastic neuroepithelial tumor Yasemin Alanay, MDz different and usually involve com- (DNET) in a 29-month-old girl with Selin Aytac, MDy pletely different metabolic pathways biotinidase deficiency identified by Mualla Cetin, MDy and genes. newborn screening. The authors imply Duygu U. Cetinkaya, MDw As stated in their report, “seizures that there may be an association *Department of Pediatrics, Faculty of are one of the manifestations of bio- between DNET and biotinidase defi- Medicine 5 tinidase deficiency” ; however, it is ciency. However, it is important to wDepartment of Pediatrics, Division of Bone not a manifestation of biotin-treated delineate all appropriate aspects of Marrow Transplantation Unit, Faculty of biotinidase deficiency. Although it is both disorders being considered in a Medicine important to report such cases, one yDepartment of Pediatrics, Division potential disease association. The should state the obvious possibility Hematology, Faculty of Medicine, authors well characterized the DNET that the DNET was just coincidental in Hacettepe University, Ankara in the girl, but they failed to provide zDepartment of Pediatrics, Division of an individual with biotinidase defi- adequate characterization of her bio- Genetics, Faculty of Medicine, Acıbadem 2 ciency. Vigilance in medicine is always tinidase deficiency. The authors did University, Istanbul, Turkey warranted, but it is important to con- not indicate child’s serum biotinidase sider all important characteristics of activity. Does the child have profound the disorders that are being considered deficiency (< 10% of mean normal in a potential disease association. The serum activity) or partial biotinidase authors may want to add the appro- deficiency (10 % to 30% of mean REFERENCES priate data on the child in their normal serum activity)? Has the child response to this letter. 1. Klinefelter HF. Klinefelter’s syndrome: had mutation analysis? Has the child historical background and development. been treated since birth? What is the South Med J. 1986;79:1089–1093. dose of biotin? Has the child been Barry Wolf MD, PhD*w 2. Pradhan D, Kaman L, Dhillon J, et al. compliant with her biotin therapy? All *Research Administration Mediastinal mixed germ cell tumor in an of this information is important to Henry Ford Hospital infertile male with Klinefelter syndrome: understand better the possible associ- wCenter for Molecular Medicine a case report and literature review. ation versus coincidental occurrence of J Cancer Res Ther. 2015;11:1034. and Genetics, Wayne State University these two relatively rare disorders. 3. Brinton LA. Breast cancer risk among Detroit, MI patients with Klinefelter syndrome. Acta These are important questions to Paediatr. 2011;100:814–818. address in children with biotinidase 4. Keung YK, Buss D, Chauvenet A, et al. deficiency especially when a possible REFERENCES Hematologic malignancies and Klinefelter association between DNET and bio- syndrome. a chance association? Cancer 1. Infinger LK, Karia SR, Kinsman SL, tinidase deficiency is being considered. Genet Cytogenet. 2002;139:9–13. et al. Subcortical DNET in a patient with Unlike many children with other 5. Shimizu Y, Suzukawa K, Hirano Y, an enzymatic deficiency: a rare case and inherited metabolic diseases, children et al. Erythropoietin-resistant anaemia review of the literature. J Pediatr Hem- with biotinidase deficiency who have in a predialysis patient with Klinefelter atol Oncol. 2016;38:e291–e294. been treated since birth and have been syndrome. Nephrology (Carlton). 2005; 2. Wolf B. Biotinidase deficiency: if you compliant with their biotin treatment 10:147–150. have to have an inherited metabolic 6. Dow G, Reid GD, Horsman DE, et al. are and have been metabolically disease, this is the one to have. Genet 2,3 Unusual rheumatological and cardiological Medicine. 2012;14:565–575. normal. We have stated that any manifestations of acute myelogenous leuke- 3. Wolf B. Successful outcomes of older child with biotinidase deficiency who is mia in a patient with Klinefelter’s syn- adolescents and adults with profound on therapy and subsequently develops drome. Leuk Lymphoma. 1993;9:419–421. biotinidase deficiency identified by new- symptoms of any kind likely has 7. Abidi SM, Griffiths M, Oscier DG, et al. born screening. Genet Med. 2016;19: another etiology for the symptoms. Primary myelodysplastic syndrome with 396–402. The etiology of these symptoms should complex chromosomal rearrangements 4. Wolf B. Why perform newborn screening be investigated and not assumed to be in a patient with Klinefelter’s syndrome. for profound and partial biotinidase J Med Genet. 1986;23:183–185. because of the enzyme deficiency. This deficiency? Mol Genet Metab. 2015;114: 8. Hasle H, Niemeyer CM. Advances in the 382–387. is exactly one of the reasons we prognostication and management of 5. Wolf B. The neurology of biotinidase advanced MDS in children. Br J Haematol. deficiency. Mol Genet Metab. 2011;104: 2011;154:185–195. The author declares no conflict of interest. 27–34. | r 82 www.jpho-online.com Copyright 2017 Wolters Kluwer Health, Inc. All rights reserved. Copyright r 2018 Wolters Kluwer Health, Inc. All rights reserved. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Pediatric Hematology / Oncology Wolters Kluwer Health

Characterizing the Biotinidase Deficiency in a Child When Considering a Possible Disease Association

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Copyright © 2017 Wolters Kluwer Health, Inc. All rights reserved.
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1077-4114
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Abstract

Letters to the Editor J Pediatr Hematol Oncol Volume 40, Number 1, January 2018 marrow failure disorders, following recommend treating children with Characterizing the acquired aplastic anemia, and as partial biotinidase deficiency with 8 4 familial MDS. Association of Kline- biotin. Partial biotinidase deficiency Biotinidase Deficiency felter syndrome and MDS has been appears to be more common than in a Child When reported in only a few patients and all profound biotinidase deficiency, and of these patients were adults and none children with partial deficiency usually 4–7 Considering a of them underwent HSCT. Inter- become symptomatic when stressed by estingly, in our case MDS developed an infection. Possible Disease in childhood and he was successfully In addition, the authors should treated with HSCT. not group clinical features found in Association other metabolic diseases together with another specific metabolic disease, such as biotinidase deficiency, when To the Editor: Esra Serdarog˘ lu, MD, PhD* 1 posing possible disease associations. Infinger et al reported a dysem- Baris Kuskonmaz, MDw The metabolic disorders are entirely bryoplastic neuroepithelial tumor Yasemin Alanay, MDz different and usually involve com- (DNET) in a 29-month-old girl with Selin Aytac, MDy pletely different metabolic pathways biotinidase deficiency identified by Mualla Cetin, MDy and genes. newborn screening. The authors imply Duygu U. Cetinkaya, MDw As stated in their report, “seizures that there may be an association *Department of Pediatrics, Faculty of are one of the manifestations of bio- between DNET and biotinidase defi- Medicine 5 tinidase deficiency” ; however, it is ciency. However, it is important to wDepartment of Pediatrics, Division of Bone not a manifestation of biotin-treated delineate all appropriate aspects of Marrow Transplantation Unit, Faculty of biotinidase deficiency. Although it is both disorders being considered in a Medicine important to report such cases, one yDepartment of Pediatrics, Division potential disease association. The should state the obvious possibility Hematology, Faculty of Medicine, authors well characterized the DNET that the DNET was just coincidental in Hacettepe University, Ankara in the girl, but they failed to provide zDepartment of Pediatrics, Division of an individual with biotinidase defi- adequate characterization of her bio- Genetics, Faculty of Medicine, Acıbadem 2 ciency. Vigilance in medicine is always tinidase deficiency. The authors did University, Istanbul, Turkey warranted, but it is important to con- not indicate child’s serum biotinidase sider all important characteristics of activity. Does the child have profound the disorders that are being considered deficiency (< 10% of mean normal in a potential disease association. The serum activity) or partial biotinidase authors may want to add the appro- deficiency (10 % to 30% of mean REFERENCES priate data on the child in their normal serum activity)? Has the child response to this letter. 1. Klinefelter HF. Klinefelter’s syndrome: had mutation analysis? Has the child historical background and development. been treated since birth? What is the South Med J. 1986;79:1089–1093. dose of biotin? Has the child been Barry Wolf MD, PhD*w 2. Pradhan D, Kaman L, Dhillon J, et al. compliant with her biotin therapy? All *Research Administration Mediastinal mixed germ cell tumor in an of this information is important to Henry Ford Hospital infertile male with Klinefelter syndrome: understand better the possible associ- wCenter for Molecular Medicine a case report and literature review. ation versus coincidental occurrence of J Cancer Res Ther. 2015;11:1034. and Genetics, Wayne State University these two relatively rare disorders. 3. Brinton LA. Breast cancer risk among Detroit, MI patients with Klinefelter syndrome. Acta These are important questions to Paediatr. 2011;100:814–818. address in children with biotinidase 4. Keung YK, Buss D, Chauvenet A, et al. deficiency especially when a possible REFERENCES Hematologic malignancies and Klinefelter association between DNET and bio- syndrome. a chance association? Cancer 1. Infinger LK, Karia SR, Kinsman SL, tinidase deficiency is being considered. Genet Cytogenet. 2002;139:9–13. et al. Subcortical DNET in a patient with Unlike many children with other 5. Shimizu Y, Suzukawa K, Hirano Y, an enzymatic deficiency: a rare case and inherited metabolic diseases, children et al. Erythropoietin-resistant anaemia review of the literature. J Pediatr Hem- with biotinidase deficiency who have in a predialysis patient with Klinefelter atol Oncol. 2016;38:e291–e294. been treated since birth and have been syndrome. Nephrology (Carlton). 2005; 2. Wolf B. Biotinidase deficiency: if you compliant with their biotin treatment 10:147–150. have to have an inherited metabolic 6. Dow G, Reid GD, Horsman DE, et al. are and have been metabolically disease, this is the one to have. Genet 2,3 Unusual rheumatological and cardiological Medicine. 2012;14:565–575. normal. We have stated that any manifestations of acute myelogenous leuke- 3. Wolf B. Successful outcomes of older child with biotinidase deficiency who is mia in a patient with Klinefelter’s syn- adolescents and adults with profound on therapy and subsequently develops drome. Leuk Lymphoma. 1993;9:419–421. biotinidase deficiency identified by new- symptoms of any kind likely has 7. Abidi SM, Griffiths M, Oscier DG, et al. born screening. Genet Med. 2016;19: another etiology for the symptoms. Primary myelodysplastic syndrome with 396–402. The etiology of these symptoms should complex chromosomal rearrangements 4. Wolf B. Why perform newborn screening be investigated and not assumed to be in a patient with Klinefelter’s syndrome. for profound and partial biotinidase J Med Genet. 1986;23:183–185. because of the enzyme deficiency. This deficiency? Mol Genet Metab. 2015;114: 8. Hasle H, Niemeyer CM. Advances in the 382–387. is exactly one of the reasons we prognostication and management of 5. Wolf B. The neurology of biotinidase advanced MDS in children. Br J Haematol. deficiency. Mol Genet Metab. 2011;104: 2011;154:185–195. The author declares no conflict of interest. 27–34. | r 82 www.jpho-online.com Copyright 2017 Wolters Kluwer Health, Inc. All rights reserved. Copyright r 2018 Wolters Kluwer Health, Inc. All rights reserved.

Journal

Journal of Pediatric Hematology / OncologyWolters Kluwer Health

Published: Jan 1, 2018

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