scholarly journals Vitamin responsive conditions in pediatric neurology

2021 ◽  
Vol 36 ◽  
pp. 42-48
Author(s):  
Chandana Bhagwat ◽  
Naveen Sankhyan

Vitamin responsive conditions can be either due to inherited defects in the metabolic pathways resulting in vitamin dependency or due to acquired deficiency states. Due to widespread malnutrition and predominantly vegetarian population in India, vitamin deficiency state is quite common and early identification is essential. Inherited defects, if treated earlier, lead to reduced morbidity and mortality and improvement in long-term neurocognitive outcomes. Various vitamin responsive conditions in pediatric neurology shall be discussed in this review. Infantile presentation of thiamine deficiency results in beriberi, and in adults, it leads to Wernicke’s encephalopathy and Korsakoff psychosis. Biotin thiamine-responsive basal ganglia disease is a defect of thiamine transporter 2, which leads to neuroregression and characteristic neuroimaging features of basal ganglia involvement, it responds to high doses of biotin and thiamine. Riboflavin is an enzyme involved in mitochondrial energy synthesis and is supplemented in various mitochondrial metabolic conditions. Brown-Vialetto-Van Laere syndrome is progressive pontobulbar palsy caused by defect in riboflavin transporters responsive to high doses of riboflavin. Pyridoxine responsive epilepsy presents with pharmacoresistant seizures in neonatal or early infantile age, biotinidase deficiency also presents with similar neurological manifestations, but typical cutaneous symptoms of rash and seborrheic dermatitis also occur. Both are epileptic encephalopathies and any infant presenting with epilepsy not responding to conventional AEDs must be given a trial of pyridoxine, biotin, and folinic acid. Vitamin B12 responsive conditions can include deficiency states, such as those manifesting with peripheral neuropathy and the syndrome of infantile tremor syndrome (developmental delay or regression, tremors, and megaloblastic anemia) as well as inherited disorders of homocysteine and cobalamin metabolism. These disorders are differentiated on the basis of clinical phenotype and laboratory parameters (serum B12, homocysteine levels, methylmalonic acid levels, etc.). Infantile tremor syndrome responds drastically to mega doses of Vitamin B12 and other multivitamins. Vitamin E deficiency causes ataxia with Vitamin E deficiency, other vitamins which can neurological symptoms include Vitamin C (pseudoparalysis) and Vitamin K (central nervous system bleeds). It is imperative for a practicing pediatrician to be well versed with these conditions, as these are potentially treatable conditions.

PEDIATRICS ◽  
1980 ◽  
Vol 66 (2) ◽  
pp. 330-331
Author(s):  
Sinasi Ozoylu

I would like to add my short comments to the concise commentary of Phelps1 on vitamin E. In addition to the mentioned several conditions related to vitamin E metabolism, probable vitamin E deficiency in the pathogenesis of thrombocytosis in Caffey's disease2 should be remembered by the pediatricians. We have seen such a case recently.3 Improvement of erythrocyte survival in chronic hemolyzing G-6 PD and glutathione synthetase deficiency with high doses of vitamin E seems to be promising approach in the treatment of these patients.4


1978 ◽  
Vol 172 (1) ◽  
pp. 115-121 ◽  
Author(s):  
A S Pappu ◽  
P Fatterpaker ◽  
A Sreenivasan

1. The disturbance in 2-methylmalonate metabolism resulting in its increased urinary excretion observed in vitamin E deficiency is not caused by increased formation of methylmalonate from propionate as is evident from the activity of the enzyme propionyl-CoA carboxylase (EC 6.4.1.3), but can be traced to an impairment in the conversion of methylmalonate into succinate by the vitamin B12-requiring enzyme, methylmalonyl-CoA mutase (EC 5.4.99.2) in rat liver. 2. It is shown that the decrease in the activity of methylmalonyl-CoA mutase in vitamin E deficiency is not a consequence of a secondary vitamin B12 deficiency. Peroxidative destruction of the coenzyme in vitamin E deficiency was also ruled out. The results suggest a defect in the conversion of cyanocobalamin into its coenzyme form.


2017 ◽  
Vol 6 (12) ◽  
pp. 5562
Author(s):  
Tiana Mary Alexander ◽  
Vineeta Pande ◽  
Sharad Agarkhedkar ◽  
Dnyaneshwar Upase

Megaloblastic anemia is a common feature between 6 months – 2 years and rarely occurs after 5 years of age, especially in a child consuming non-vegetarian diet. B12 deficiency may occur after 5 years of age because of chronic diarrhea, malabsorption syndrome, or intestinal surgical causes. Pernicious anemia causes B12 deficiency, but nutritional B12 deficiency with subacute combined degeneration causing ataxia is rare.


Circulation ◽  
1996 ◽  
Vol 94 (1) ◽  
pp. 14-18 ◽  
Author(s):  
Kunihisa Miwa ◽  
Yuko Miyagi ◽  
Akihiko Igawa ◽  
Keiko Nakagawa ◽  
Hiroshi Inoue

Heliyon ◽  
2021 ◽  
pp. e07339
Author(s):  
Daniel Edem Kpewou ◽  
Faustina O. Mensah ◽  
Collins A. Appiah ◽  
Huseini Wiisibie Alidu ◽  
Vitus Sambo Badii

1979 ◽  
Vol 20 (2) ◽  
pp. 289-305
Author(s):  
M. G. Simesen ◽  
H. E. Nielsen ◽  
V. Danielsen ◽  
G. Gissel-Nielsen ◽  
W. Hjarde ◽  
...  

Author(s):  
S. Lucas-Del-Pozo ◽  
D. Moreno-Martínez ◽  
M. Tejero-Ambrosio ◽  
J. Hernández-Vara

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