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Muscle Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Kourosh Rezania, Peter Pytel, Betty Soliven
HypoPP is an autosomal dominant disorder characterized by episodes of flaccid muscle weakness associated with hypokalemia. Types of hypoPP include: HypoPP1 (mutations in calcium channel gene [CACNA1S] dihydropyridine receptor) (most common).HypoPP2 (SCN4A mutations).HypoPP3 (KCNE3).Thyrotoxic periodic paralysis (KCNJ18).Andersen–Tawil syndrome (KCNJ2): 65% hypokalemic, remainder normokalemic or hyperkalemic; characteristic facies and long QT arrhythmia present.Distal renal tubular acidosis (SLC4A1).
Prenatal and Genetic Magnesium Deficiency in Cardiomyopathy: Possible Vitamin and Trace Mineral Interactions
Published in Fima Lifshitz, Childhood Nutrition, 2020
Patterns of Hereditary Renal Magnesium Wasting—Three types of hereditary renal hypomagnesemia have been suggested:43 an autosomal dominant pattern of inheritance is believed to be present in patients with isolated familial hypomagnesemia; an autosomal recessive trait has been suggested in familial hypomagnesemia caused by a low renal magnesium threshold that is associated with hypokalemia, metabolic alkalosis, hypocalciuria, and moderate salt wasting; and familial hypomagnesemic hypercalciuria, caused by a defect in absorption of both magnesium and calcium at the ALLH, with renal calcinosis, also may be inherited as an autosomal recessive trait. This condition has not been clearly separated from hereditary distal renal tubular acidosis. A form of hypomagnesemic hypokalemia that may be transmitted by an autosomal recessive gene has been described in a young son of a woman suffering from chronic hypomagnesemia.57 He had no symptoms of his subnormal magnesium and potassium serum levels, other than carpopedal spasms, that were not relieved by magnesium or potassium therapy. This defect was postulated to be caused by inability to maintain a normal gradient between intra- and extracellular magnesium and potassium.
Carnitine palmitoyl transferase I 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
Renal tubular acidosis has been observed in a number of patients [6, 18, 22]. It may be transient, or associated with myopathy and elevated creatine deficiency [23]. A patient displayed distal renal tubular acidosis, in which there was failure to acidify the urine during spontaneous acidosis [24]. Most patients have survived and there is a tendency to decreased frequency and severity of attacks with time and with learning to avoid fasting. In general, fasting over 15 hours is required to exhaust glycogen stores and call on fatty acid oxidation.
Sulfate and acid-base balance
Published in Scandinavian Journal of Clinical and Laboratory Investigation, 2023
Troels Ring, Sebastian Frische, Stephen Edward Rees, Jette Nybo, Søren Risom Kristensen
In conclusion, using fluids with constant [Na] and constant [HEPES] we found that pH declined as sulfate ions were added, and we could verify that the titratable acidity increased linearly with [sulfate]. Therefore, sulfate excretion per se is acid excretion. This undermines the traditional concept that sulfate excretion is a direct marker of endogenous acid production. The findings are in accordance with the fact that sulfate reabsorption by the proximal sodium-sulfate cotransporter NaSi1 is downregulated under acidosis and explains why children with distal renal tubular acidosis may be in negative sulfate balance. The analysis also undermines traditional concepts of what an acid is, but crucially, the results are completely understandable using charge-balance modeling, based only on the three fundamental concepts of electroneutrality, conservation of mass, and rules of dissociation as derived from physical chemistry.
Screening tools for hereditary hemolytic anemia: new concepts and strategies
Published in Expert Review of Hematology, 2021
Elisa Fermo, Cristina Vercellati, Paola Bianchi
RBC membrane defects are characterized by qualitative or quantitative abnormalities of the erythrocyte cytoskeletal proteins, which constitute a complex structure that determines the erythrocyte shape and deformability, and regulates the hydration state and cell volume. These alterations result in typical abnormalities in RBC morphology that can be observed at peripheral blood smear examination. The most common defects involve alterations in the membrane structural organization; in hereditary spherocytosis (HS), defects of ankyrin, spectrin, protein band 3, and band 4.2 impair the vertical linkage between the cytoskeleton and the membrane lipidic bilayer, leading to the release of microvesicles and loss of surface; conversely, impairment of the horizontal associations of the RBC cytoskeleton due to alterations in spectrin dimers or spectrin-actin-protein 4.1 complexes, results in hereditary elliptocytosis (HE) or hereditary pyropoikilocytosis (HPP). Given the constitutional expression and the double function (structural and membrane channel) of band 3, abnormalities in this protein may be associated to the severe form of distal renal tubular acidosis (dRTA), with or without HS [1,2].
Identification and characterization of the VAX2 p.Leu139Arg variant: possible involvement of VAX2 in cone dystrophy
Published in Ophthalmic Genetics, 2018
Giovanna Alfano, Naushin H. Waseem, Andrew R. Webster, Shomi S. Bhattacharya
Two independent research groups have reported that the genetic inactivation of Vax2 in mouse produces an incompletely penetrant ocular coloboma (2,3). Therefore, VAX2 represents a good candidate gene for isolated colobomata in humans. However, mutations in VAX2 have not yet been identified in coloboma or anophthalmia/microphthalmia patients (4). Besides, a potential involvement of VAX2 is found in the pathogenesis of astigmatism in the Caucasian population (5). Of note, a case report described a homozygous deletion at 2p13.3 encompassing all of ATP6V1B1 and part of VAX2 gene in a patient affected by distal renal tubular acidosis. The patient showed an ocular phenotype diagnosed as bilateral rod/cone photoreceptor dystrophy and mild optic atrophy, and therefore, the authors suggested a role of this homeobox gene in retinal function (6). Investigations in mouse have revealed that Vax2 regulates the retinoic acid distribution in retina to ensure appropriate gene expression in cone photoreceptor cells (7). However, no severe cone dysfunction is detected by electroretinogram (ERG) in the knockout mouse model of Vax2 (7).