Maternally Inherited Diabetes and Deafness (MIDD) with Undetectable CPeptide Level and Cerebellar Atrophy

Yoshifumi Saisho,Jun Inaishi

doi:10.4172/2165-7920.1000366

Yoshifumi Saisho, Jun Inaishi

Open Access

https://doi.org/10.4172/2165-7920.1000366

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Journal: Journal of Clinical Case Reports	Publication Date: Jan 1, 2014
Citations: 6	License type: cc-by

Affiliation: Keio University

Abstract

Maternally inherited diabetes and deafness (MIDD), also called mitochondrial diabetes mellitus, is a rare form of diabetes that comprises 0.5-2.8% of the diabetic population. Most cases of MIDD are associated with a point mutation in the mitochondrial DNA (mtDNA) at position 3243 of the leucine tRNA gene (A3243G) . Patients with MIDD are characterized by 1) young onset of diabetes, 2) absence of obesity, 3) neurosensory hearing loss, 4) maternal family history of diabetes and 5) progressive insulin secretory defect. In most cases of MIDD, diabetes is non-insulin dependent at onset, but progresses to require insulin therapy thereafter. However, to our knowledge, few cases with MIDD show complete loss of C-peptide level during the course of the disease

Highlights

MIDD: Maternally Inherited Diabetes and Deafness; C-peptide immnoreactivity (CPR): CPeptide immunoreactivity; GAD: Glutamic Acid Decarboxylase; IA-2: Insulinoma-Associated protein-2; magnetic resonance imaging (MRI): Magnetic Resonance Imaging; intravenous glucose tolerance test (IVGTT): Intravenous Glucose Tolerance Test
HbA1c level remained at 7-8%, he was admitted to our hospital at the age of 42 because of repeated episodes of hypoglycemia
Hosszufalusi et al reported that there is a loss of first phase and total CPR response but measurable fasting CPR (0.79-6.57 ng/ml) during an intravenous glucose tolerance test (IVGTT) in patients with MIDD compared with nondiabetic controls [6]

Summary

Introduction

MIDD: Maternally Inherited Diabetes and Deafness; CPR: CPeptide immunoreactivity; GAD: Glutamic Acid Decarboxylase; IA-2: Insulinoma-Associated protein-2; MRI: Magnetic Resonance Imaging; IVGTT: Intravenous Glucose Tolerance Test. Most cases of MIDD are associated with a point mutation in the mitochondrial DNA (mtDNA) at position 3243 of the leucine tRNA gene (A3243G) [2,3,4]. Patients with MIDD are characterized by 1) young onset of diabetes, 2) absence of obesity, 3) neurosensory hearing loss, 4) maternal family history of diabetes and 5) progressive insulin secretory defect [1,2,3,5].

Results

Conclusion