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Megaloblastic anaemia in infancy or early childhood and diabetes as leading symptoms of the TRMA syndrome

Author(s): Agnieszka Zmysłowska | Wojciech Młynarski

Journal: Pediatric Endocrinology, Diabetes and Metabolism
ISSN 2081-237X

Volume: 18;
Issue: 1;
Start page: 37;
Date: 2012;
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Keywords: monogenic diabetes | anaemia | deafnes | |

Diabetes mellitus may occur in children and adolescents as an independent disease, most frequently as autoimmune type 1 diabetes, or can coexist with other abnormalities. If diabetes coincides with other disorders occurring sequentially, a syndromic form of monogenic diabetes should be suspected. Thiamine-responsive megaloblastic anaemia (TRMA) syndrome is an example of a rare form of monogenic diabetes coexisting with anaemia and deafness. In the paper, we discuss clinical features and treatment of TRMA syndrome – a unique syndromic form of vitamin-dependent monogenic diabetes. The review might be useful in establishing a prompt diagnosis and initiating optimal management in children and adolescents with the disease.
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