Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates. (umassmed.edu)
Lipid Metabolism, Inborn Errors" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (musc.edu)
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. (musc.edu)
This graph shows the total number of publications written about "Lipid Metabolism, Inborn Errors" by people in this website by year, and whether "Lipid Metabolism, Inborn Errors" was a major or minor topic of these publications. (musc.edu)
Below are the most recent publications written about "Lipid Metabolism, Inborn Errors" by people in Profiles. (musc.edu)
Gene mutations cause changes in enzyme function, metabolic pathway, ion transport, and receptor sensitivity, causing defects in oxalic acid metabolism, cystine metabolism, calcium ion metabolism, or purine metabolism, which may lead to the formation of renal calculus. (bvsalud.org)
This article reviews the research progress on renal calculus associated with inborn error of metabolism, to provide reference for early screening, diagnosis, treatment, prevention and recurrence of renal calculus. (bvsalud.org)
Evaluating patients with possible inborn errors of metabolism using random urine specimens. (marshfieldlabs.org)
Many inborn errors of amino acid metabolism that affect amino acid transport or metabolism have been identified, such as phenylketonuria and tyrosinemia. (marshfieldlabs.org)
Carbohydrate metabolism, inborn errors refer to genetic disorders that affect the body's ability to properly process carbohydrates, leading to various metabolic disorders. (lookformedical.com)
Approach to the Patient With a Suspected Inherited Disorder of Metabolism Most inherited disorders of metabolism (inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. (msdmanuals.com)
Initial testing Most inherited disorders of metabolism (inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. (msdmanuals.com)
Disorders9
Inborn errors of renal tubular transport are metabolic disorders which lead to impairment in the ability of solutes, such as salts or amino acids, to be transported across the brush border of the renal tubule. (wikipedia.org)
Examples of these disorders include Iminoglycinuria, renal tubular acidosis and Gitelman syndrome. (wikipedia.org)
The disorder, which has a familial predisposition and occurs predominantly in males, has similarities to three X-linked proximal renal tubular disorders that are due to mutations in the renal chloride channel gene, CLCN5. (ox.ac.uk)
Prié D, Friedlander G. Genetic disorders of renal phosphate transport. (medscape.com)
Disorders characterized by defective transport of amino acids across cell membranes. (nih.gov)
General elevations in urine amino acid levels, called aminoaciduria, can be seen in disorders with amino acid transport defects such as lysinuric protein intolerance and Hartnup disease, as well as in conditions with renal tubular dysfunction including Lowe syndrome and Dent disease. (marshfieldlabs.org)
Glomerulonephropathies and Disorders of Tubular Function 92. (booksca.ca)
Sly, W. S., Sato, S. & Zhu, X. L. Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis. (diabetestalk.net)
In secondary carnitine deficiency, which is caused by other metabolic disorders (eg, fatty acid oxidation disorders, organic acidemias), carnitine depletion may be secondary to the formation of acylcarnitine adducts and the inhibition of carnitine transport in renal cells by acylcarnitines. (medscape.com)
Reduced renal tubular reabsorption1
Metabolic acidosis develops because of impaired renal tubular ammonia production, decreased urinary excretion of hydrogen ion and reduced renal tubular reabsorption of bicarbonate. (vin.com)
Reabsorption2
This results in disruptions of renal reabsorption. (wikipedia.org)
Valproic acid may cause an acquired type of secondary carnitine deficiency by directly impairing renal tubular reabsorption of carnitine. (medscape.com)
Metabolic2
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. (nih.gov)
Recent studies have revealed that gene mutations may lead to metabolic defects which are associated with the formation of renal calculus, and single gene mutation is involved in relative high proportion of renal calculus. (bvsalud.org)
Acidosis1
Rodriguez-Soriano, J. & Vallo, A. Renal tubular acidosis. (diabetestalk.net)
Proximal renal3
An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES. (uchicago.edu)
The annual urinary screening of Japanese children above 3 yr of age has identified a progressive proximal renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria, and nephrocalcinosis. (ox.ac.uk)
Thus, the results of our study expand the spectrum of clinical phenotypes associated with CLCN5 mutations to include this proximal renal tubular disorder of Japanese children. (ox.ac.uk)
Proteinuria2
Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). (ox.ac.uk)
In the absence of treatment, renal disease progresses from microscopic hematuria (microhematuria) to proteinuria, progressive renal insufficiency, and end-stage renal disease (ESRD) in all males with XLAS, and in all males and females with ARAS. (nih.gov)
Mutations4
Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. (uams.edu)
AIM: Biallelic loss-of-function FAM20A mutations cause amelogenesis imperfecta (AI) type IG, better known as enamel renal syndrome (ERS), characterized by severe enamel hypoplasia, delayed/failed tooth eruption, intrapulpal calcifications, gingival hyperplasia and nephrocalcinosis. (bvsalud.org)
Assadi F. Lack of NPHP2 mutations in a newborn infant with Joubert syndrome-related disorder presenting as end-stage renal disease. (rush.edu)
SLC22A5 mutations can affect carnitine transport by impairing maturation of transporters to the plasma membrane. (medscape.com)
Tubule2
Boron, W. F. Acid base transport by the renal proximal tubule. (diabetestalk.net)
Defects of amino acid transport in the renal tubule include cystinuria and Hartnup disease, which are discussed elsewhere. (msdmanuals.com)
Genetic1
60% of genetic aHUS progresses to end-stage renal disease (ESRD). (nih.gov)
Abnormalities1
In Alport syndrome (AS) a spectrum of phenotypes ranging from progressive renal disease with extrarenal abnormalities to isolated hematuria with a non-progressive or very slowly progressive course is observed. (nih.gov)
Etiology1
Renal calculus is a common disease with complex etiology and high recurrence rate. (bvsalud.org)
Syndrome2
Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. (nih.gov)
Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. (nih.gov)
Functional KIDNEY FAILURE in patients with liver disease, usually LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL), and in the absence of intrinsic renal disease or kidney abnormality. (rush.edu)
[ 5 , 6 ] However, lowered serum phosphate levels correlated with an equal degree of renal tubular reduction of tubular time of maximal concentration (T max ) of phosphate in both sexes, pointing to an additional factor in the creation of the bone disease in affected males. (medscape.com)
Clinical Evaluation of Renal and Urinary Tract Disease 90. (booksca.ca)
Deficiency1
Preterm newborns also may be at risk for developing carnitine deficiency because immature renal tubular function combined with impaired carnitine biosynthesis renders them strictly dependent on exogenous supplies to maintain normal plasma carnitine levels. (medscape.com)
Secondary1
Renal secondary hyperparathyroidism results from phosphorus retention and decreased production of calcitriol. (vin.com)
Failure4
Terminal stages of renal failure may present in seizures and tetany. (vin.com)
Amyloidosis, which can lead to renal failure, is the most severe complication, if untreated. (nih.gov)
Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. (nih.gov)
Maintaining Appropriate Fluid Quantity Stabilize Persevere in precise intake and achievement monitoring and recording to evaluate the advancement toward renal failure. (mein-schoenefeld.info)
Retention2
It is characterized by intense renal vasculature constriction, reduced renal blood flow, OLIGURIA, and sodium retention. (rush.edu)
We explored whether LPL affects (a) lipoprotein transport across bovine aortic endothelial cells or (b) lipoprotein binding to subendothelial cell matrix (retention). (jci.org)
Basolateral1
In intestinal ENTEROCYTES it mediates intracellular calcium transport from apical to basolateral membranes via calcium binding at two EF-HAND MOTIFS. (lookformedical.com)
Intracellular1
and transport across the membranes of intracellular organelles. (nih.gov)
Proteins2
Calcium-binding proteins that are found in DISTAL KIDNEY TUBULES, INTESTINES, BRAIN, and other tissues where they bind, buffer and transport cytoplasmic calcium. (lookformedical.com)
They can act as transport proteins, regulator proteins, or activator proteins. (lookformedical.com)
Department of Medicine1
Dr. Tan is Assistant Professor of Medicine, Division of Renal-Electrolyte, Department of Medicine at the University of Pittsburgh. (regenerativemedicine.net)
Chain2
Reducing equivalents produced in the Krebs cycle and in the beta-oxidation spirals are passed along a series of protein complexes embedded in the inner mitochondrial membrane (the electron transport chain). (medlink.com)
The electron transport chain consists of 4 multimeric complexes (I to IV) plus 2 small electron carriers, coenzyme Q10 (or ubiquinone) and cytochrome c . (medlink.com)
Central1
It plays a central role in the transport of IRON throughout the circulation. (lookformedical.com)
Small1
Radiographs demonstrate thin flattened vertebrae, short ribs, small sacrosciatic notch, extremely short long tubular bones, and markedly short and curved femora (telephone receiver-like appearance). (medscape.com)