Diabetic acido-ketosis revealing thiamine-responsive megaloblastic anemia

Bouyahia, Olfa; Ouderni, M.; Mansour, Fayzeh; Matoussi, N.; Khaldi, F.

doi:10.1016/j.ando.2009.09.001

Cited by 8 publications

(3 citation statements)

References 13 publications

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“…In contrast with neurosensory disorders, anemia and diabetes improve with pharmacological doses of oral thiamine and may lead to insulin discontinuation. Poor blood glucose control however reoccurs most of the time during adolescence, thus requiring resumption of insulin therapy [37,38]. …”

Section: Diabetesmentioning

confidence: 99%

Endocrine manifestations related to inherited metabolic diseases in adults

Vantyghem

Dobbelaere

Mention

et al. 2012

Orphanet J Rare Dis

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Most inborn errors of metabolism (IEM) are recessive, genetically transmitted diseases and are classified into 3 main groups according to their mechanisms: cellular intoxication, energy deficiency, and defects of complex molecules. They can be associated with endocrine manifestations, which may be complications from a previously diagnosed IEM of childhood onset. More rarely, endocrinopathies can signal an IEM in adulthood, which should be suspected when an endocrine disorder is associated with multisystemic involvement (neurological, muscular, hepatic features, etc.). IEM can affect all glands, but diabetes mellitus, thyroid dysfunction and hypogonadism are the most frequent disorders. A single IEM can present with multiple endocrine dysfunctions, especially those involving energy deficiency (respiratory chain defects), and metal (hemochromatosis) and storage disorders (cystinosis). Non-autoimmune diabetes mellitus, thyroid dysfunction and/or goiter and sometimes hypoparathyroidism should steer the diagnosis towards a respiratory chain defect. Hypogonadotropic hypogonadism is frequent in haemochromatosis (often associated with diabetes), whereas primary hypogonadism is reported in Alström disease and cystinosis (both associated with diabetes, the latter also with thyroid dysfunction) and galactosemia. Hypogonadism is also frequent in X-linked adrenoleukodystrophy (with adrenal failure), congenital disorders of glycosylation, and Fabry and glycogen storage diseases (along with thyroid dysfunction in the first 3 and diabetes in the last). This is a new and growing field and is not yet very well recognized in adulthood despite its consequences on growth, bone metabolism and fertility. For this reason, physicians managing adult patients should be aware of these diagnoses.

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Section: Diabetesmentioning

confidence: 99%

Endocrine manifestations related to inherited metabolic diseases in adults

Vantyghem

Dobbelaere

Mention

et al. 2012

Orphanet J Rare Dis

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“…Examination of the bone marrow reveals megaloblastic anemia with erythroblasts often containing iron filled mitochondria (ringed sideroblasts). [7–9] SLC19A2, which encodes the high affinity thiamine transporter, gene known to be associated with TRMA, is shown to induce these abnormalities. The reduced nucleic acid production through impaired transketolase catalysis is the underlying bio-chemical disturbance that likely induces cell cycle arrest or apoptosis in bone marrow cells and leads to TRMA syndrome in patients with defective high affinity thiamine transport.…”

Section: Discussionmentioning

confidence: 99%

“…The thiamine replacement is variously reported to cause remission of diabetes mellitus and has also been reported to develop diabetic ketoacidosis, although the mechanism is not known. [7] Progressive sensorineural hearing loss has generally been early onset, is irreversible, and may not be prevented by thiamine treatment. [2]…”

Section: Introductionmentioning

confidence: 99%

Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent

Ganie

Ali

Ahangar

et al. 2012

Indian J Endocr Metab

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Thiamine responsive megaloblastic anemia syndrome, an autosomal recessive inherited disorder characterized by a triad of anemia, diabetes mellitus and sensorineural deafness is caused by a deficiency of a thiamine transporter protein. The disorder is rare and has not been reported from our community which has high background of consanguinity. We report a six years old girl who presented with diabetes mellitus which remitted after thiamine replacement. The girl in addition had sensorineural deafness, reinopathy, atrial septal defect and megaloblastic anemia which responded to high doses of thymine. This is the first case reported from Kashmir valley and third from India. The presentation and management in such cases is discussed.

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