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.
MeSH terms
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Adolescent
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Anemia, Macrocytic / genetics*
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Anemia, Megaloblastic / drug therapy
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Anemia, Megaloblastic / genetics*
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Child
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Child, Preschool
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Deafness / genetics*
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Diabetes Mellitus / genetics*
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Female
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Genes, Recessive
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Humans
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Infant
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Ketoglutarate Dehydrogenase Complex / deficiency*
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Ketone Oxidoreductases / deficiency*
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Male
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Pyruvate Dehydrogenase Complex / blood
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Syndrome
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Thiamine / administration & dosage
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Thiamine / therapeutic use*
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Transketolase / blood
Substances
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Pyruvate Dehydrogenase Complex
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Ketone Oxidoreductases
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Ketoglutarate Dehydrogenase Complex
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Transketolase
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Thiamine