Thiamine Deficiency in Infancy: Long-Term Follow-Up

Mimouni-Bloch, Aviva; Goldberg‐Stern, Hadassa; Strausberg, R.; Brezner, Amichai; Heyman, Eli; Inbar, Dov; Kivity, Sara; Zvulunov, Alex; Sztarkier, Ignacio; Fogelman, Rami; Fattal‐Valevski, Aviva

doi:10.1016/j.pediatrneurol.2014.05.010

Cited by 48 publications

(61 citation statements)

References 12 publications

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“…One phenomenon that contributes to irreversible damage is focal cell necrosis, where dead cells are not replaced34353637. These relatively recent observations that a short-lasting (days–weeks) episode of thiamine deficiency may cause long-lasting (many years or for the rest of an organism’s life) sublethal effects3839 add another dimension to the problem. In fact, many feral animals may have gone through one or more episodes of thiamine deficiency in recent years and thus suffer from a long-lasting or permanent reduction in thiamine-dependent enzyme activities.…”

Section: Discussionmentioning

confidence: 99%

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Widespread episodic thiamine deficiency in Northern Hemisphere wildlife

Balk

Hägerroth

Gustavsson

et al. 2016

Sci Rep

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Many wildlife populations are declining at rates higher than can be explained by known threats to biodiversity. Recently, thiamine (vitamin B1) deficiency has emerged as a possible contributing cause. Here, thiamine status was systematically investigated in three animal classes: bivalves, ray-finned fishes, and birds. Thiamine diphosphate is required as a cofactor in at least five life-sustaining enzymes that are required for basic cellular metabolism. Analysis of different phosphorylated forms of thiamine, as well as of activities and amount of holoenzyme and apoenzyme forms of thiamine-dependent enzymes, revealed episodically occurring thiamine deficiency in all three animal classes. These biochemical effects were also linked to secondary effects on growth, condition, liver size, blood chemistry and composition, histopathology, swimming behaviour and endurance, parasite infestation, and reproduction. It is unlikely that the thiamine deficiency is caused by impaired phosphorylation within the cells. Rather, the results point towards insufficient amounts of thiamine in the food. By investigating a large geographic area, by extending the focus from lethal to sublethal thiamine deficiency, and by linking biochemical alterations to secondary effects, we demonstrate that the problem of thiamine deficiency is considerably more widespread and severe than previously reported.

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Section: Discussionmentioning

confidence: 99%

“…78 and disease with more or less permanent damage e.g. 3839. For example, the decrease in TK activity during an episode of severe thiamine deficiency is only partly reversible286979.…”

Section: Methodsmentioning

confidence: 99%

Widespread episodic thiamine deficiency in Northern Hemisphere wildlife

Balk

Hägerroth

Gustavsson

et al. 2016

Sci Rep

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“…11,12 Thiamine levels can be determined in body fluids, but the procedure is time-consuming and may not be available to all. MR imaging of the brain is considered optimal for a rapid imaging-based diagnosis of IEBB.…”

Section: Discussionmentioning

confidence: 99%

“…Basal ganglia changes in IEBB have been documented as reversible with early thiamine supplementation, and failure to administer thiamine may result in permanent brain damage. 4,11,13 We were able to recognize basal ganglia lesions on cUS at presentation and continued with thiamine supplementation with favorable immediate clinical outcome in all. Basal ganglia hyperechogenicity was demonstrated to decrease slowly with thiamine, reverting to a normal appearance in 6 -8 weeks in 63% (26/41).…”

Section: 23mentioning

confidence: 90%

“…Thiamine deficiency resulting in deficient adenosine triphosphate production consequent to defective thiamine-dependent oxidative glucose metabolism preferentially manifests with changes in the basal ganglia in children. 4,[11][12][13] Vasogenic and cytotoxic edema has been proposed as the underlying cause of basal ganglia changes in IEBB. An edematous appearance of the basal ganglia on cUS manifests with increased echogenicity.…”

Section: 23mentioning

confidence: 99%

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Cranial Ultrasonography in Infantile Encephalitic Beriberi: A Useful First-Line Imaging Tool for Screening and Diagnosis in Suspected Cases

Wani¹,

Qureshi

Ahmad

et al. 2016

American Journal of Neuroradiology

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Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

Ortigoza‐Escobar

Alfadhel

Molero-Luís

et al. 2017

Annals of Neurology

119

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Primary and secondary conditions leading to thiamine deficiency have overlapping features in children, presenting with acute episodes of encephalopathy, bilateral symmetric brain lesions, and high excretion of organic acids that are specific of thiamine-dependent mitochondrial enzymes, mainly lactate, alpha-ketoglutarate, and branched chain keto-acids. Undiagnosed and untreated thiamine deficiencies are often fatal or lead to severe sequelae. Herein, we describe the clinical and genetic characterization of 79 patients with inherited thiamine defects causing encephalopathy in childhood, identifying outcome predictors in patients with pathogenic SLC19A3 variants, the most common genetic etiology. We propose diagnostic criteria that will aid clinicians to establish a faster and accurate diagnosis so that early vitamin supplementation is considered. Ann Neurol 2017;82:317-330.

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Thiamine Deficiency in Infancy: Long-Term Follow-Up

Cited by 48 publications

References 12 publications

Widespread episodic thiamine deficiency in Northern Hemisphere wildlife

Widespread episodic thiamine deficiency in Northern Hemisphere wildlife

Cranial Ultrasonography in Infantile Encephalitic Beriberi: A Useful First-Line Imaging Tool for Screening and Diagnosis in Suspected Cases

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

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