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Pyruvate carboxylase deficiency
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
All forms of pyruvate carboxylase deficiency appear to be inherited in an autosomal recessive fashion. A founder effect has been postulated for the abnormal gene in the Canadian Indians, all of whom speak the Algonquin language [35].
Neurology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Fenella Kirkham, Adnan Manzur, Stephanie Robb
This is due to mitochondrial disorders (pyruvate carboxylase deficiency, pyruvate dehydrogenase deficiency, respiratory chain enzyme deficiencies). Children show progressive movement disorders, usually extrapyramidal, ptosis and ophthalmoplegia and seizures.
Diseased States in Man and Other Vertebrates
Published in D. B. Keech, J. C. Wallace, Pyruvate Carboxylase, 2018
Two main clinical features of patients with inherited pyruvate carboxylase deficiency are congenital lactic acidosis and deterioration of the central nervous system (CNS) (summarized in References 34, 42, 687, and 694). Other symptoms and signs are listed in Table 3. In many cases the lactic acidosis is severe and contributes to neonatal death, while in some cases lactic acidosis is mild, late in onset, and is associated with less severe lesions in the CNS (summarized in Reference 34). Although the activity of pyruvate carboxylase in patients with a deficiency of this enzyme is quite low, as discussed below, chronic hypoglycemia and episodes of pronounced acute hypoglycemia are not generally observed.35,230 Proximal renal tubular acidosis has been reported in three cases.34,344,345
Coincidental occurance of episodic ataxia and multiple sclerosis: a case report and review of the literature
Published in International Journal of Neuroscience, 2022
Melike Batum, Ayşın Kısabay Ak, Güldeniz Çetin, Hamide Betül Gerik Çelebi, Sırrı Çam, Hatice Mavioğlu
Episodic ataxia is a clinical condition characterized by episodes of balance and impairment that last minutes to hours. It can be inherited or occur sporadically. It can also be seen sporadically in epilepsy, basilar migraine, multiple sclerosis, vertebrobasilar ischaemia, and labyrinth diseases. Apart from these. Symptoms of paroxysmal dysarthria-ataxia (secondary PDA) may also be present. Attacks of paroxysmal ataxia of primary type have been associated with genetic etiologies (EA 1-7) [1]. Hereditary episodic ataxias, spinocerebellar ataxia type 6, some mitochondrial disorders (such as pyruvate decarboxylase deficiency and pyruvate dehydrogenase deficiency), aminoaciduria (such as Hartnup disease, ketoaciduria, and isovaleric acidaemia), and hyperammonaemia due to urea cycle enzyme deficiency can also lead to episodic ataxia [1].
Ketogenic diet: overview, types, and possible anti-seizure mechanisms
Published in Nutritional Neuroscience, 2021
Mohammad Barzegar, Mohammadreza Afghan, Vahid Tarmahi, Meysam Behtari, Soroor Rahimi Khamaneh, Sina Raeisi
It has been shown that KD may not be appropriate for a few groups of patients, and therefore the suitability of the diet should be carefully assessed before the administration. There are some definite contraindications that include: fatty acid oxidation defects, carnitine deficiencies, organic acidurias, pyruvate carboxylase deficiency, familial hyperlipidemia, hypoglycemia, ketogenesis/ketolysis defects, severe gastroesophageal reflux, severe liver diseases, and disorders needing a high carbohydrate diet such as acute intermittent porphyria. Additionally, diabetes mellitus, certain mitochondrial diseases, and concomitant steroid use can also be considered as possible contraindications. Therefore, before administering a KD, a careful evaluation of the patients should be conducted by an expert neurologist [36].
The place of a ketogenic diet in the treatment of resistant epilepsy: a comprehensive review
Published in Nutritional Neuroscience, 2023
Pyruvate carboxylase deficiency, primary carnitine deficiency, carnitine palmitoyltransferase I or II deficiency, carnitine conversion deficiency, medium-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, short-chain acyl dehydrogenase deficiency, medium-chain acyl deficiency dehydrogenase deficiency, long-chain acyl dehydrogenase deficiency, short-chain acyl dehydrogenase deficiency and porphyria are among the absolute contraindications [13].