Glutamic acid decarboxylase antibody-spectrum disorders and type 1 diabetes mellitus in a patient following allogenic hematopoietic cell transplantation with review of literature

Glutamic acid decarboxylase (GAD) is an enzyme that catalyzes the conversion of glutamic acid into γ-aminobutyric acid (GABA), the primary inhibitory neurotransmitter in the central nervous system (CNS). GAD is widely expressed in the CNS and pancreatic β-cells. GABA produced by GAD plays a role in...

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Main Authors: Shinichiro Sano, Taemi Ogura, Takayuki Takachi, Yuki Murai, Yasuko Fujisawa, Tsutomu Ogata, Kenichiro Watanabe, Masaki Yoshimura
Format: Article
Language:English
Published: The Japan Endocrine Society 2025-03-01
Series:Endocrine Journal
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Online Access:https://www.jstage.jst.go.jp/article/endocrj/72/3/72_EJ24-0457/_html/-char/en
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author Shinichiro Sano
Taemi Ogura
Takayuki Takachi
Yuki Murai
Yasuko Fujisawa
Tsutomu Ogata
Kenichiro Watanabe
Masaki Yoshimura
author_facet Shinichiro Sano
Taemi Ogura
Takayuki Takachi
Yuki Murai
Yasuko Fujisawa
Tsutomu Ogata
Kenichiro Watanabe
Masaki Yoshimura
author_sort Shinichiro Sano
collection DOAJ
description Glutamic acid decarboxylase (GAD) is an enzyme that catalyzes the conversion of glutamic acid into γ-aminobutyric acid (GABA), the primary inhibitory neurotransmitter in the central nervous system (CNS). GAD is widely expressed in the CNS and pancreatic β-cells. GABA produced by GAD plays a role in regulating insulin secretion in pancreatic islets. Anti-GAD antibody is an established marker of type 1 diabetes mellitus (T1DM) and is also associated with stiff-person syndrome (SPS) and several other neurological disorders, including ataxia, cognitive impairment, limbic encephalitis, and epilepsy, collectively referred to as GAD antibody-spectrum disorders (GAD-SD). We report the case of a 17-year-old male patient who developed GAD-SD and T1DM after allogeneic hematopoietic cell transplantation (HCT). He presented with memory disorders, including feelings of déjà vu, accompanied by vomiting and headaches, and exhibited abnormal brain magnetic resonance imaging and electroencephalogram results. In addition to elevated fasting plasma glucose and glycated hemoglobin levels, markedly elevated anti-GAD antibody levels were detected in the serum and cerebrospinal fluid. Based on these findings, the patient was diagnosed with GAD-SD and T1DM and treated with methylprednisolone, followed by multiple daily insulin injections. We also reviewed previously reported cases of GAD-SD following HCT and multiple positive islet-related antibodies.
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spelling doaj-art-d2baf98b7e594b35a3d1d5aa114b88d52025-08-20T02:18:04ZengThe Japan Endocrine SocietyEndocrine Journal1348-45402025-03-0172333334010.1507/endocrj.EJ24-0457endocrjGlutamic acid decarboxylase antibody-spectrum disorders and type 1 diabetes mellitus in a patient following allogenic hematopoietic cell transplantation with review of literatureShinichiro Sano0Taemi Ogura1Takayuki Takachi2Yuki Murai3Yasuko Fujisawa4Tsutomu Ogata5Kenichiro Watanabe6Masaki Yoshimura7Department of Diabetes and Metabolism, Shizuoka Children’s Hospital, Shizuoka 420-8660, JapanDepartment of Hematology and Oncology, Shizuoka Children’s Hospital, Shizuoka 420-8660, JapanDepartment of Hematology and Oncology, Shizuoka Children’s Hospital, Shizuoka 420-8660, JapanDepartment of Diabetes and Metabolism, Shizuoka Children’s Hospital, Shizuoka 420-8660, JapanDepartment of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu 431-3192, JapanDepartment of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu 431-3192, JapanDepartment of Hematology and Oncology, Shizuoka Children’s Hospital, Shizuoka 420-8660, JapanDepartment of Epilepsy, National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka 420-8688, JapanGlutamic acid decarboxylase (GAD) is an enzyme that catalyzes the conversion of glutamic acid into γ-aminobutyric acid (GABA), the primary inhibitory neurotransmitter in the central nervous system (CNS). GAD is widely expressed in the CNS and pancreatic β-cells. GABA produced by GAD plays a role in regulating insulin secretion in pancreatic islets. Anti-GAD antibody is an established marker of type 1 diabetes mellitus (T1DM) and is also associated with stiff-person syndrome (SPS) and several other neurological disorders, including ataxia, cognitive impairment, limbic encephalitis, and epilepsy, collectively referred to as GAD antibody-spectrum disorders (GAD-SD). We report the case of a 17-year-old male patient who developed GAD-SD and T1DM after allogeneic hematopoietic cell transplantation (HCT). He presented with memory disorders, including feelings of déjà vu, accompanied by vomiting and headaches, and exhibited abnormal brain magnetic resonance imaging and electroencephalogram results. In addition to elevated fasting plasma glucose and glycated hemoglobin levels, markedly elevated anti-GAD antibody levels were detected in the serum and cerebrospinal fluid. Based on these findings, the patient was diagnosed with GAD-SD and T1DM and treated with methylprednisolone, followed by multiple daily insulin injections. We also reviewed previously reported cases of GAD-SD following HCT and multiple positive islet-related antibodies.https://www.jstage.jst.go.jp/article/endocrj/72/3/72_EJ24-0457/_html/-char/enanti-glutamic acid decarboxylase antibodyglutamic acid decarboxylase antibody-spectrum disordertype 1 diabetes mellitushematopoietic cell transplantation
spellingShingle Shinichiro Sano
Taemi Ogura
Takayuki Takachi
Yuki Murai
Yasuko Fujisawa
Tsutomu Ogata
Kenichiro Watanabe
Masaki Yoshimura
Glutamic acid decarboxylase antibody-spectrum disorders and type 1 diabetes mellitus in a patient following allogenic hematopoietic cell transplantation with review of literature
Endocrine Journal
anti-glutamic acid decarboxylase antibody
glutamic acid decarboxylase antibody-spectrum disorder
type 1 diabetes mellitus
hematopoietic cell transplantation
title Glutamic acid decarboxylase antibody-spectrum disorders and type 1 diabetes mellitus in a patient following allogenic hematopoietic cell transplantation with review of literature
title_full Glutamic acid decarboxylase antibody-spectrum disorders and type 1 diabetes mellitus in a patient following allogenic hematopoietic cell transplantation with review of literature
title_fullStr Glutamic acid decarboxylase antibody-spectrum disorders and type 1 diabetes mellitus in a patient following allogenic hematopoietic cell transplantation with review of literature
title_full_unstemmed Glutamic acid decarboxylase antibody-spectrum disorders and type 1 diabetes mellitus in a patient following allogenic hematopoietic cell transplantation with review of literature
title_short Glutamic acid decarboxylase antibody-spectrum disorders and type 1 diabetes mellitus in a patient following allogenic hematopoietic cell transplantation with review of literature
title_sort glutamic acid decarboxylase antibody spectrum disorders and type 1 diabetes mellitus in a patient following allogenic hematopoietic cell transplantation with review of literature
topic anti-glutamic acid decarboxylase antibody
glutamic acid decarboxylase antibody-spectrum disorder
type 1 diabetes mellitus
hematopoietic cell transplantation
url https://www.jstage.jst.go.jp/article/endocrj/72/3/72_EJ24-0457/_html/-char/en
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