Pearson syndrome in an infant heterozygous for C282Y allele of HFE gene

Kefala-Agoropoulou, Kalomoira; Roilides, Emmanuel; Lazaridou, Anna; Karatza, Eliza; Farmaki, Evangelia; Tsantali, Haido; Augoustides‐Savvopoulou, Persephone; Tsiouris, John A.

doi:10.1080/10245330701400900

Cited by 4 publications

(2 citation statements)

References 13 publications

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“…In both cases, MDs have been associated with different deficiencies in mitochondrial functions and evidence has been reported for prooxidant states as clinical and/or molecular OS hallmarks [9–34]. Endogenous MDF in PMDs has been shown to affect oxidative phosphorylation (OXPHOS) activities in PMDs (Complex I, III, and/or IV), as in mitochondrial myopathy, encephalomyopathy, lactic acidosis, stroke-like symptoms (MELAS) [15–19], Kearns-Sayre syndrome [23], chronic progressive external ophthalmoplegia (CPEO) [24, 25], and Pearson syndrome [26, 27]. An overall OXPHOS inhibition has also been observed in SMDs, as Alpers-Huttenlocher syndrome, along with polymerase γ mutations [28–31].…”

Section: Mitochondrial Diseasesmentioning

confidence: 99%

Oxidative Stress and Mitochondrial Dysfunction across Broad-Ranging Pathologies: Toward Mitochondria-Targeted Clinical Strategies

Pagano

Talamanca

Castello

et al. 2014

Oxidative Medicine and Cellular Longevity

116

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Beyond the disorders recognized as mitochondrial diseases, abnormalities in function and/or ultrastructure of mitochondria have been reported in several unrelated pathologies. These encompass ageing, malformations, and a number of genetic or acquired diseases, as diabetes and cardiologic, haematologic, organ-specific (e.g., eye or liver), neurologic and psychiatric, autoimmune, and dermatologic disorders. The mechanistic grounds for mitochondrial dysfunction (MDF) along with the occurrence of oxidative stress (OS) have been investigated within the pathogenesis of individual disorders or in groups of interrelated disorders. We attempt to review broad-ranging pathologies that involve mitochondrial-specific deficiencies or rely on cytosol-derived prooxidant states or on autoimmune-induced mitochondrial damage. The established knowledge in these subjects warrants studies aimed at elucidating several open questions that are highlighted in the present review. The relevance of OS and MDF in different pathologies may establish the grounds for chemoprevention trials aimed at compensating OS/MDF by means of antioxidants and mitochondrial nutrients.

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Section: Mitochondrial Diseasesmentioning

confidence: 99%

Oxidative Stress and Mitochondrial Dysfunction across Broad-Ranging Pathologies: Toward Mitochondria-Targeted Clinical Strategies

Pagano

Talamanca

Castello

et al. 2014

Oxidative Medicine and Cellular Longevity

116

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“…Haemosiderosis in this patient may have been caused by compound heterozygosity (C282Y and H63D) for mutations of the hereditary haemochromatosis gene HFE, but other infants with Pearson syndrome also have had hepatic haemosiderosis, one of whom was heterozygous for the C282Y mutation. 1853,1854 Navajo neurohepatopathy (NNH) is an autosomal recessive disorder resulting in sensorimotor neuropathy in full-blooded Navajo Indian children (of the southwestern United States) first described by Appenzeller et al 1855 in 1976 and further characterized by Singleton et al 1856 in 1990 and Holve et al 1857 in 1999. The latter authors suggested changing the name from 'neuropathy' to 'neurohepatopathy' because liver involvement is an important component of the disease.…”

Section: Mevalonate Kinase Deficiencymentioning

confidence: 99%

Developmental and Inherited Liver Disease

Quaglia¹,

Roberts²,

Torbenson³

2018

Macsween's Pathology of the Liver

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Diagnostic approach to histology 113 Neonatal and early infantile liver disease 113 Postneonatal, childhood and adulthood presentation 118 Neonatal hepatitis 119 Histopathological features 120 Biliary atresia 121 Classification and aetiopathogenesis 121 Pathological features at surgical intervention 124 Pathology of intrahepatic changes 126 Paucity of intrahepatic bile ducts 129 Alagille syndrome (arteriohepatic dysplasia) 129 Nonsyndromic duct paucity disorders 131 Bile duct anomalies, congenital dilations and ductal plate malformation disorders 131 Choledochal cyst 132 Hereditary fibropolycystic disease (ductal plate malformation) 133 Cystic fibrosis 141 Hereditary disorders of bile acid synthesis and bilirubin metabolism 143 Primary disorders of bile acid synthesis 143 Disorders of bile canalicular transporters 146 Other diseases causing intrahepatic cholestasis 150 Hereditary defects of bilirubin metabolism 151 Disorders of porphyrin metabolism 153 Porphyria cutanea tarda 154 Erythropoietic protoporphyria 155 Disorders of carbohydrate metabolism and related conditions 156 Glycogen storage diseases (glycogenoses) 156 Myoclonus epilepsy, Lafora type (Lafora disease) 161 Galactosaemia Hereditary fructose intolerance Disorders of glycoprotein and glycolipid metabolism Mucopolysaccharidoses Aspartylglucosaminuria α-Mannosidosis Fucosidosis Mucolipidoses Congenital disorders of glycosylation (carbohydrate-deficient glycoprotein syndrome) Endoplasmic reticulum storage diseases α1-Antitrypsin deficiency α1-Antichymotrypsin deficiency Afibrinogenaemia and hypofibrinogenaemia Antithrombin III deficiency Disorders of amino acid metabolism Hereditary tyrosinaemia type 1 Congenital hyperammonaemia syndromes and urea cycle disorders Cystinosis Homocystinuria (cystathionine β-synthase deficiency) Disorders of lipoprotein and lipid metabolism Abetalipoproteinaemia Familial hypobetalipoproteinaemia Familial high-density lipoprotein deficiency (Tangier disease) Familial hypercholesterolaemia Wolman disease and cholesteryl ester storage disease Gangliosidoses α-Galactosidase A deficiency (Fabry disease) Sulphatide lipidosis (metachromatic leucodystrophy) Chapter 3 Developmental and Inherited Liver Disease

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