Posts Categorized: Part 17: VITAMINS



Biotinidase deficiency should be considered in the differential diagnosis of myelopathy

Posted by & filed under Part 17: VITAMINS, _.

In this review, B. Wolf highlights the importance of considering biotinidase deficiency in the differential diagnosis of myelopathy. He reviews 18 previously reported patients who presented with spastic para- or tetraplegia due to myelopathy with and without vision loss and were ultimately diagnosed with profound biotinidase deficiency, but often after a prolonged diagnostic odyssey resulting […]



Folinic acid in the treatment of schizophrenia associated with folate receptor antibodies

Posted by & filed under Part 17: VITAMINS.

Ramaekers VT et al. Folinic acid treatment for schizophrenia associated with folate receptor autoantibodies. Mol Genet Metab. 2014 Dec;113(4):307-14.   This study suggests an exciting avenue for treatment and scientific inquiry  in schizophrenia. Previous reports have associated schizophrenia with perturbed folate metabolism, and cerebral folate deficiency due to serum antibodies against folate receptor alpha (which transfers […]



Thiamine pyrophosphokinase deficiency: a treatable inborn error of metabolism

Posted by & filed under Part 17: VITAMINS.

Banka S et al. Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations. Mol Genet Metab. 2014 Oct 5. [Epub ahead of print]   Thiamine pyrophosphokinase (TPK) deficiency causing episodic encephalopathy type thiamine metabolism dysfunction is the most recently discovered thiamine-responsive inborn error of metabolism, with […]



Pyridoxine responsiveness in PNPO deficiency

Posted by & filed under Part 17: VITAMINS, Part 28: NEUROGENETICS.

Plecko B, Paul K, Mills P, et al. (2014) Pyridoxine responsiveness in novel mutations of the PNPO gene. Neurology 82(16): 1425-1433. Pyridoxal 5’-phosphate dependent epilepsy due to pyridox(am)ine 5’-phosphate oxidase deficiency is a newly discovered treatable cause of neonatal epileptic encephalopathy, clinically resembling pyridoxine-dependent epilepsy due to antiquitin deficiency  (Mills, Surtees et al. 2005). PNPO […]



Newborn screening for pyridoxine-dependent epilepsy

Posted by & filed under Part 17: VITAMINS, Treatment.

LC-MS/MS based newborn screening for pyridoxine-dependent epilepsy (PDE) appears to be feasible based on Jung et al. (2013).  ?-AASA and P6C were measured retrospectively in original newborn DBS of five patients with PDE. Both compounds appeared to be significantly increased compared to samples from unaffected individuals (in newborn DBS stored at -20°C; but also in […]



S-adenosylmethionine and S-adenosyl homocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation

Posted by & filed under Part 17: VITAMINS, Part 28: NEUROGENETICS, _.

Hagebeuk EEO et al. S-adenosylmethionine and S-adenosyl homocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation. J Inherited Metab Dis (2013) 36:967-972   Rett syndrome, a devastating disorder characterised by neuroregression after an initial period of normalcy, is caused by mutations in the MECP2 gene encoding the methyl […]



Mutation in folate metabolism causes epigenetic instability and transgenerational effects on development.

Posted by & filed under Part 17: VITAMINS, _.

In a complex but interesting study, Padmanabhan et al. created transgenic mice with impaired folate metabolism because of heterozygosity for a knock-down allele for Mtrr (encoding methionine synthase reductase, which is necessary in mammals for the activation of methionine synthase). They then interbred these mice with wild-type controls through several generations and evaluated their wild-type […]



Mefolinate (5-methyltetrahydrofolate) as a treatment of severe MTHFR deficiency

Posted by & filed under Part 17: VITAMINS, Treatment.

Li, D. et al. Mefolinate (5-methyltetrahydrofolate), but not folic acid, decreases mortality in an animal model of severe methylenetetrahydrofolate reductase deficiency. Journal of Inherited Metabolic Disease Volume 31, Number 3 / June, 2008 In a mouse model of severe MTHFR deficiency, Mefolinate administration to the mother improved survival and cerebellar morphology in the pups. This […]