Literature DB >> 4045602

Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity.

M R Abboud, D Alexander, S S Najjar.   

Abstract

Three brothers with diabetes mellitus, thiamine-responsive megaloblastic anemia, and sensorineural deafness are reported. Two had, in addition, congenital septal defects. The activities of thiamine-dependent enzymes were determined in one patient, revealing low alpha-ketoglutarate dehydrogenase activity, which could have caused a sideroblastic anemia with secondary megaloblastic changes. The anemia was thiamine dependent. The cause of the diabetes mellitus was not known, but it was not type 1.

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Year:  1985        PMID： 4045602     DOI： 10.1016/s0022-3476(85)80011-1

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  17 in total

1.  Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.

Authors:  E J Neufeld; H Mandel; T Raz; R Szargel; C N Yandava; A Stagg; S Fauré; T Barrett; N Buist; N Cohen
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

2.  Loss-of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes.

Authors:  Prapaporn Jungtrakoon; Jun Shirakawa; Patinut Buranasupkajorn; Manoj K Gupta; Dario F De Jesus; Marcus G Pezzolesi; Aussara Panya; Timothy Hastings; Chutima Chanprasert; Christine Mendonca; Rohit N Kulkarni; Alessandro Doria
Journal:  Diabetes       Date:  2019-03-04       Impact factor: 9.461

Review 3.  Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia.

Authors:  Kazumichi Furuyama; Kiriko Kaneko
Journal:  Int J Hematol       Date:  2017-11-14       Impact factor: 2.490

4.  Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia.

Authors:  G Rindi; C Patrini; U Laforenza; H Mandel; M Berant; M B Viana; V Poggi; A N Zarra
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

5.  A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I.

Authors:  C Scharfe; M Hauschild; T Klopstock; A J Janssen; P H Heidemann; T Meitinger; M Jaksch
Journal:  J Med Genet       Date:  2000-09       Impact factor: 6.318

6.  Pancytopenia in an adult patient with thiamine-responsive megaloblastic anaemia.

Authors:  Virginie Moulin; Francesco Grandoni; Julien Castioni; Henri Lu
Journal:  BMJ Case Rep       Date:  2018-06-14

Review 7.  Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease.

Authors:  Hong Ye; Tracey A Rouault
Journal:  Biochemistry       Date:  2010-06-22       Impact factor: 3.162

Review 8.  The biochemical basis of mitochondrial diseases.

Authors:  H R Scholte
Journal:  J Bioenerg Biomembr       Date:  1988-04       Impact factor: 2.945

9.  Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.

Authors:  Anke K Bergmann; Inderneel Sahai; Jill F Falcone; Judy Fleming; Adam Bagg; Caterina Borgna-Pignati; Robin Casey; Luca Fabris; Elizabeth Hexner; Lulu Mathews; Maria Leticia Ribeiro; Klaas J Wierenga; Ellis J Neufeld
Journal:  J Pediatr       Date:  2009-07-29       Impact factor: 4.406

10.  Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.

Authors:  Anke K Bergmann; Dean R Campagna; Erin M McLoughlin; Suneet Agarwal; Mark D Fleming; Sylvia S Bottomley; Ellis J Neufeld
Journal:  Pediatr Blood Cancer       Date:  2010-02       Impact factor: 3.167
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