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Kearns–Sayre syndrome
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Coenzyme Q10 may be of benefit. Treatment with 60–120 mg daily was reported [39] to be associated with decrease in modestly elevated levels of lactic and pyruvic acids and improvement in the prolongation of the PQ interval on the ECG, as well as ocular movements. The QRS complex did not change. Concentrations of folic acid and of carnitine may be reduced in plasma or muscle, and treatment with these agents may be useful. A vitamin B complex supplement is often prescribed. Two patients with cerebral folate deficiency were successfully treated with folic or folinic acid [7, 39]. In one [7] treatment with folinic acid at 2.5 mg/kg/day led to ambulation with ataxic gait in a patient who had lost the ability to walk. After one year of treatment, the 5-MTHF in the CSF was normal. Cranial MRI revealed improved myelination.
Mitochondrial Pathologies and Their Neuromuscular Manifestations
Published in Shamim I. Ahmad, Handbook of Mitochondrial Dysfunction, 2019
Carlos Ortez, Andrés Nascimento
Kearns-Sayre syndrome (KSS) is a multisystem disorder characterized by childhood-onset PEO and pigmentary retinopathy (<20 years of age), associated with at least one of the following signs: cardiac conduction block, hyperproteinorachia or cerebellar ataxia2,7,10. Other manifestations are frequent including limb weakness, hearing loss, dementia, diabetes, hypoparathyroidism and short stature (growth hormone deficiency). Also cerebral folate deficiency have being associated in most of the patients, so folinic acid supplementation its recommended in early stages of the disease11,12. Muscle biopsy shows RRF, SDH+ and COX- fibers with defect of RC complexes containing mtDNA-encoded subunits. Nearly 90% of individuals with KSS have a large-scale mtDNA deletion that is usually present in muscle, but undetectable in blood cells, necessitating muscle biopsy2,7.
Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up
Published in Critical Reviews in Clinical Laboratory Sciences, 2023
Abraham J. Paredes-Fuentes, Clara Oliva, Roser Urreizti, Delia Yubero, Rafael Artuch
Folate is an essential vitamin in one-carbon metabolism and is involved in hundreds of methylation reactions involving proteins, DNA, purine biosynthesis, and other essential processes. Some MDs may present with a specific cerebral folate deficiency, although its exact prevalence remains unknown. In such a deficiency, peripheral folate levels are normal while CSF folate (5-methyltetrahydrofolate, the most abundant folate vitamer) levels are low [58]. The molecular mechanism in MDs that cause cerebral folate deficiency is thought to be related to bioenergetic failure and difficulties in conducting the active transport of folate through the choroid plexus from blood to CSF. However, it is unlikely to be the only factor that causes its depletion, as it is not a universal feature of MDs [58,59].
Folic acid increases levels of GHS in brain of rats with oxidative stress induced with 3-nitropropionic acid
Published in Archives of Physiology and Biochemistry, 2020
David Calderón Guzmán, Norma Osnaya Brizuela, Maribel Ortiz Herrera, Hugo Juárez Olguín, Armando Valenzuela Peraza, Ernestina Hernández García, Gerardo Barragán Mejía
Cerebral folate deficiency is defined as any neurological condition associated with low cerebrospinal fluid folate concentrations. Presently, several neurological diseases are being associated with this deficiency (Molero-Luis et al.2015). There is evidence that metabolism of the transmitter DA by the enzyme monoamine oxidase contributes to striatal damage in mitochondrial toxin-induced models of Huntington's disease (Smith et al.2005). This disease is a devastating neurodegenerative disorder that reflects neuronal dysfunction, which can lead to neuronal death in selected brain regions, principally the striatum and cerebral cortex (Browne and Beal 2006). Even the results of the present study shows that FA administration has no effect over DA levels in striatum, cortex and cerebellum/medulla oblongata of animals that received 3NPA, the increment of 5-HIAA levels in striatum of rats treated with FA alone or combined with 3NPA supports the idea that FA modulates biogenic amines in the brain and that folates are needed for the synthesis of norepinephrine and serotonin (Fava and Mischoulon 2009). However, important metabolism may modulate beta-amyloid peptide (Aβ) through up-regulation of alpha-secretase in neurological diseases (Kotagal et al.2018).
Autistic traits and components of the folate metabolic system: an explorative analysis in the eastern Indian ASD subjects
Published in Nutritional Neuroscience, 2020
Sharmistha Saha, Tanusree Saha, Swagata Sinha, Usha Rajamma, Kanchan Mukhopadhyay
Exploration on the nutritional status was considered as an effective tool for the diagnosis and dietary treatment of subjects with ASD by several investigators [7,11,21]. Hyperhomocysteinemia has been correlated with the etiology of ASD [11] and folate supplementation was found to lower the incidence of autism [21]. Previous investigators have also suggested a strong association between cerebral folate deficiency and ASD [8]. In the Caucasoid population, a 75% higher VB6 level was reported in a small group of children with ASD (N = 35; male:female = 6:1) when compared with matched controls [22]. On the contrary, in the eastern Indian ASD probands, we have noticed significant VB6 deficiency, irrespective of gender (N = 79; male:female 4.3:1). This difference in VB6 level between the two study groups could be due to the food habits of the two populations or due to some other factors, which merits further exploration. Stratified analysis in our study revealed maximum VB6 deficit in individuals with rs2071010 ‘GG’ and rs2298444 ‘AA’, more so for the male probands. We may speculate from our data that this deficit in VB6 may affect the trait scores measured by CARS, thus delineating ASD-associated phenotypes. For rs1801198, while probands with both ‘CC’ and ‘GG’ exhibited deficit in the serum levels of VB6, concentration was higher in those with ‘CG’ genotype. Probands with ‘GG’ genotype showed a higher score for ‘Level and consistency of intellectual response’, while those with ‘CG’ had a lower score. On the basis of these observations, we hypothesize that the ‘Level and consistency of intellectual response’ could be regulated by VB6, and thus, this CARS-associated trait could be modulated by simple dietary fortification or VB6 supplementation. An earlier preliminary randomized trial showed that treatment with high-dose VB6 improved verbal IQ in a group of ASD subjects [23]. VB6 is a regulatory factor for efficient homocysteine metabolism [18] and hyperhomocysteinemia was hypothesized to have a role in ASD etiology [11]. All these observations warrant further investigation to ascertain whether our observed association between trait scores and VB6 is due to a change in the level of homocysteine in subjects with ASD.