Inherited metabolic disorders

Oxidoreductases (ORases) are enzymes that catalyze oxidation and reduction reactions in cells or extracellular compartments of the body. Genetic mutations and other factors that affect ORase activity have been implicated in a range of diseases, especially inherited metabolic disorders. Aldose reductase, sorbitol dehydrogenase, xanthine oxidoreductase are the ORases with relevance to diabetes pathology.

7p dianmotminh02 03-05-2024 3 1   Download

Part 2 book "Canine and feline nutrition" includes content: Inherited disorders of nutrient metabolism, development and treatment of obesity, diabetes mellitus, dietary management of urolithiasis in cats and dogs, nutritionally responsive dermatoses, chronic renal failure, feline hepatic lipidosis, dental health and diet, nutritional management of gastrointestinal disease,... and other contents.

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Glycogen storage diseases (GSDs) are rare inherited metabolic disorders characterized by the absence of required enzymes for the glycogen degradation metabolism. GSD can be divided into more than 12 types based on enzyme deficiency and affected tissues, in which glycogen storage disease type Ia (GSD1a or von Gierke disease) is a liver-affecting form.

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Part 2 book "Diagnostic imaging brain" includes content: Primary nonneoplastic cysts; infectious, inflammatory, and demyelinating disease; inherited metabolic degenerative disorders; acquired toxic metabolic degenerative disorders; ventricles and cisterns sella and pituitary; skull, scalp, and meninges.

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Part 1 book "Medical genetics " includes contents: Background and history; basic cell biology - Structure and function of genes and chromosomes, genetic variation - Its origin and detection, autosomal dominant and recessive inheritance, sex linked and nontraditional modes of inheritance, clinical cytogenetics - The chromosomal basis of human disease; biochemical genetics - Disorders of metabolism.

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Lafora disease is a rare genetic disorder involving glycogen metabolism disorder. It is inherited by autosomal recessive pattern presenting as a progressive myoclonus epilepsy and neurologic deterioration beginning in adolescence. It is characterized by Lafora bodies in tissues such as brain, skin, muscle, and liver.

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Diabetes mellitus is the most common metabolic disease globally, while glucose-6-phosphate dehydrogenase deficiency, an X-linked inherited disorder, is the most common erythrocyte enzyme defect. The association between the two in children has been infrequently reported.

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Infantile Sandhof disease is a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord, and is classified under lysosomal storage disorder. It is an autosomal recessive disorder of sphingolipid metabolism that results from deficiency of the lysosomal enzymes β-hexosaminidase A and B.

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Diagnosis of rare diseases or disorders is understandably challenging because it is unfeasible for practicing physicians to make themselves familiar with hundreds of rare diseases. The diagnosis of rare inherited metabolic syndromes such as mucopolysaccharidoses is additionally complicated by the lack of confirmatory sophisticated laboratory tests in many areas of the world.

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Fabry disease is a rare inborn error of metabolism with profound clinical consequences if untreated. It is caused by the deficiency of α galactosidase A enzyme and is the only lysosomal storage disorder with an X linked inheritance.

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Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by malfunction of the branched-chain α-ketoacid dehydrogenase complex (BCKDH). This enzyme complex participates in the catalyzing metabolisms of the branched-chain αketoacids, the second step of the degradation of branched-chain amino acids. Impaired activities of the BCKAD complex lead to an increase of the levels of branched- chain amino acid such as leucine, valine, and isoleucine in the blood.

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Glycogen storage disease type Ia (GSD Ia), a rare autosomal inherited disorder, is characterized by accumulation of excessive glycogen and fat in the liver. Primary symptoms of GSD Ia include hypoglycemia; metabolic acidosis; elevated levels of lactate, uric acid and lipids; hepatomagaly and growth retardation. Glycogen storage disease type Ia was caused by mutations in the G6PC gene. In this study, mutations in a Vietnamese patient with glycogen storage disease type Ia were analyzed using the whole exome sequencing method. A missense mutation c.356A>T (p.

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The UGT1A1 gene encodes a responsible enzyme, UDP-glucuronosyltransferase1A1 (UGT1A1), for bilirubin metabolism. Many mutations have already been identified in patients with inherited disorders with unconjugated hyperbilirubinemia, such as Crigler-Najjar syndromes and Gilbert’s syndrome.

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Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHS) deficiency is an autosomal recessive inborn error of metabolism, which will give rise to failure of ketogenesis in liver during illness or fasting. It is a very rare disease with only a few patients reported worldwide, most of which had a good prognosis after proper therapies.

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Allogeneic hematopoietic stem cell transplantation (allo-HSCT) from a geno-identical matched sibling (MSD) is one of the most successful therapies in patients with non-malignant hematological disorders. This study included 273 patients with severe aplastic anemia (SAA), 152 patients with B-Thalassemia major (BTM), 31 patients with Fanconi’s anemia (FA), 20 patients with congenital immunodeficiency diseases (ID), and 13 patients with inherited metabolic disorders (IMD) allografted from a MSD. In SAA, the 8-year overall survival (OS) of the whole group patients was 74%.

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Familial hypercholesterolemia (FH) is an inherited disorder of lipid metabolism. FH is characterized by raised serum LDL - C levels, leading to accelerated atherosclerosis and increased risk of premature coronary heart disease. More than 80% of the time, FH is caused by mutations in the LDL receptor. The LDL receptor consists of 18 exons, and the largest number of LDLR mutations are believed to be in exons 4 and 3. The aim of our study was to examine mutations in exons 3 and 4 of the LDLR gene in Vietnamese patients with FH.

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part 2 book “oxford textbook of neuromuscular disorders” has contents: inherited myasthenic syndromes, myasthenia gravis, the dystrophinopathies, skeletal muscle channelopathies, endocrine myopathies, metabolic myopathies ,… and other contents.

210p tieu_vu13 06-08-2018 27 1   Download

(BQ) Part 1 of the document Elsevier's integrated review genetics presents the following contents: Basic mechanisms, chromosomes in the cell, mechanisms of inheritance, genetics of metabolic disorders, cancer genetics, hematologic genetics and disorders.

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(BQ) Continued part 1, part 2 of the document Diagnostic imaging gastrointestinal presents the following contents: Spleen (normal variants and artifacts, congenital, congenital,...), liver (congenital, infection, metabolic or inherited,...), biliary system (normal variants and artifacts, congenital, vascular disorders,...), pancreas (degenerative, treatment related, malignant neoplasms,...).

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(BQ) Continued part 1, part 2 of the document Oxford handbook of endocrinology and diabetes presents the following contents: Endocrinology in pregnancy, calcium and bone metabolism, paediatric endocrinology, neuroendocrine disorders, inherited endocrine syndromes and MEN, endocrine surgery,... and other contents.

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