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Hypoparathyroidism in pediatric patients
Published in Pallavi Iyer, Herbert Chen, Thyroid and Parathyroid Disorders in Children, 2020
Andrew C. Calabria, Michael A. Levine
Several syndromes that arise from deletions in mitochondrial DNA have also been associated with hypoparathyroidism, but the mechanism(s) by which mitochondrial defects affect parathyroid gland development or function are unknown (5). These primary mitochondrial disorders include the Kearns–Sayre syndrome (encephalomyopathy, ophthalmoplegia, retinitis pigmentosa, heart block), the Pearson marrow-pancreas syndrome (sideroblastic anemia, neutropenia, thrombocytopenia, pancreatic dysfunction), and the maternally inherited diabetes and deafness syndrome. Hypoparathyroidism has also been described in patients with the mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, owing to point mutations in mitochondrial tRNA. In addition, mutations in the mitochondrial trifunctional protein (MTP) that result in either isolated long-chain 3-hydroxy-acyl-coenzyme A dehydrogenase (LCHAD) deficiency or loss of all three MTP enzymatic activities have been associated with hypoparathyroidism in a few unrelated patients. This condition manifests as hypoketotic hypoglycemia, cardiomyopathy, hepatic dysfunction, and developmental delay and is associated with maternal fatty liver of pregnancy. Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) due to mutations in the ACADM gene has also been associated with hypoparathyroidism.
Liver disease
Published in Catherine Nelson-Piercy, Handbook of Obstetric Medicine, 2020
A subgroup of women with AFLP and haemolysis, elevated liver enzymes and low platelets (HELLP) syndrome have been reported to be heterozygous for long-chain 3-hydroxy-acyl-coenzyme A dehydrogenase (LCHAD) deficiency, a disorder of mitochondrial fatty acid oxidation. These women may succumb to AFLP or HELLP syndrome when the fetus is homozygous for β-fatty acid oxidation disorders.
Inborn errors of metabolism
Published in Martin Andrew Crook, Clinical Biochemistry & Metabolic Medicine, 2013
Medium-chain acyl coenzyme A dehydrogenase deficiency is autosomal recessive and is one of the most common fatty acid oxidation defects (about 1 in 10 000 live births). This potentially fatal condition may present with hypoketotic hypoglycaemia, encephalopathy, seizures and hepatomegaly following diarrhoea and vomiting (reduced food intake). Urinary dicarboxylic aciduria with glycine conjugates may occur, along with increased plasma octanoylcarnitine (an acylcarnitine).
An update on diagnosis and therapy of metabolic myopathies
Published in Expert Review of Neurotherapeutics, 2018
Disorders of the lipid metabolism are classified according to histological criteria into those with lipid depositions on histological investigations and those without lipid depositions. Those with lipid deposition include, for example, primary carnitine deficiency (PCD), multi-acyl-coenzyme-A dehydrogenase deficiency (MADD), and neutral lipid storage disease with myopathy (NLSD-M) (Table 1) [7]. Those without lipid depositions include, for example, carnitine palmitoyl-transferase-2 (CPT-2) deficiency, mitochondrial trifunctional protein deficiency (MTPD), and the very long chain acyl-coenzyme-A dehydrogenase deficiency (VLCAD). Metabolic myopathies due impaired lipid metabolism may be further divided into those with defective transport of fatty acids into mitochondria and those with impaired oxidation of fatty acids (FAODs) within mitochondria. Up to at least 25 enzymes and specific transport proteins in the β-oxidation pathway have been detected of which 18 have been associated with human disease [8]. Half of these may go along with myopathy (Table 1). Recently, mutations in the electron transfer flavoprotein dehydrogenase (ETFDH) have been identified, which go along with either glutaric aciduria or with lipid storage myopathy.
Anti-biofilm effect of a butenolide/polymer coating and metatranscriptomic analyses
Published in Biofouling, 2018
Wei Ding, Chunfeng Ma, Weipeng Zhang, Hoyin Chiang, Chunkit Tam, Ying Xu, Guangzhao Zhang, Pei-Yuan Qian
Firstly, comparing the DCOIT-treated biofilms and the control biofilms, genes involved in energy production, including enoyl-coenzyme A hydratase/carnithine racemase (COG1024) and acyl-coenzyme A dehydrogenases (COG1960) had lower abundance in the butenolide treated biofilms, suggesting inhibition of these genes by butenolide. In particular, acyl-coenzyme A dehydrogenase is an enzyme which generates energy by catalyzing the β-oxidation of long chain fatty acids (McAndrew et al. 2008). It has been demonstrated that butenolide binds to very long chain acyl-coenzyme A dehydrogenase, actin, and glutathione S-transferases in the barnacle Balanus (=Amphibalanus) amphitrite, and based on the result of in vitro molecular assay using purified proteins and compounds, butenolide binds to the succinyl-coenzyme A synthetase β subunit in the marine bacterium Vibrio sp. UST020129-010 to inhibit its growth (Zhang et al. 2012). These results imply that butenolide inhibits marine biofilm formation by altering the primary metabolism in microbes. It is worthwhile mentioning that some biocides also affect energy metabolism in bacteria. For example, tetrakis (hydroxymethyl) phosphonium sulfate has been shown to affect energy metabolic pathways in sulfate-reducing bacteria (Lee et al. 2010).
Diagnostic challenges in metabolic myopathies
Published in Expert Review of Neurotherapeutics, 2020
Corrado Angelini, Roberta Marozzo, Valentina Pegoraro, Sabrina Sacconi
The four types of FAO disorders due to mutations of genes encoding for specific enzymes of lipid metabolism, that always determine abnormal storage of LDs in muscle and present myopathic symptoms are the following: primary carnitine deficiency (PCD, OMIM#212,140), multiple acyl-coenzyme A dehydrogenase deficiency (MADD, OMIM#231,680), neutral lipid storage disease with ichthyosis (NLSD-I, OMIM#275,630), and neutral lipid storage disease with myopathy (NLSD-M, OMIM#610,717) [21,22]. The carnitine palmitoyl transferase deficiency (CPT-II deficiency, OMIM#600,650) is classically included in this group although, in patients, a scanty accumulation of muscle LDs has been detected [23].