NIH/UW entry on Primary Hyperoxaluria Type 1 GeneReview/NCBI/NIH/UW entry on Primary Hyperoxaluria Type 2 Primary hyperoxaluria ... Peroxisomal disorder "LEARN Oxalosis & Hyperoxaluria , Oxalosis & Hyperoxaluria Foundation". www.ohf.org. "Primary ... Oxalate stones in primary hyperoxaluria tend to be severe, resulting in relatively early kidney damage (in teenage years to ... Primary hyperoxaluria is a rare condition (autosomal recessive), resulting in increased excretion of oxalate (up to 600 mg a ...
Primary hyperoxaluria Enteric hyperoxaluria Idiopathic hyperoxaluria Oxalate poisoning The main therapeutic approach to primary ... Hyperoxaluria can be primary (as a result of a genetic defect) or secondary to another disease process. Type I primary ... Secondary hyperoxaluria is much more common than primary hyperoxaluria, and should be treated by limiting dietary oxalate and ... A child with primary hyperoxaluria was treated with a liver and kidney transplant. A favorable outcome is more likely if a ...
Primary Hyperoxaluria type 2 is caused by any one of several mutations to the GRHPR gene and results in the accumulation of ... Primary hyperoxaluria is a condition that results in the overproduction of oxalate which combines with calcium to generate ... "Primary hyperoxaluria". Retrieved 4 March 2013. Holzer H, Holldorf A (1957). "[Isolation of D-glycerate dehydrogenase, some ... Rumsby, G; Pagon, RA; Bird, TD; Dolan, CR; Stephens, K; Adam, MP (1993). "Primary Hyperoxaluria Type 2". PMID 20301742. {{cite ...
260000 HYPEROXALURIA, PRIMARY, TYPE II; HP2". OMIM. Retrieved 2023-10-05. "Primary Hyperoxaluria Type 2". GeneReviews®. ... D-Glyceric acidemia should not be confused with L-Glyceric acidemia (a.k.a. L-glyceric aciduria, a.k.a. primary hyperoxaluria ...
Nishiyama K, Funai T, Katafuchi R, Hattori F, Onoyama K, Ichiyama A (Jul 1991). "Primary hyperoxaluria type I due to a point ... von Schnakenburg C, Rumsby G (1997). "Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene". J. ... Disease: primary hyperoxaluria type I". Hum. Genet. 104 (5): 441. doi:10.1007/s004390050984. PMID 10394939. S2CID 34307977. ... Danpure CJ (1993). "Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate ...
Danpure CJ (2005). "Primary hyperoxaluria: From gene defects to designer drugs?". Nephrology Dialysis Transplantation. 20 (8): ...
Bogle MA, Teller CF, Tschen JA, Smith CA, Wang A (October 2003). "Primary hyperoxaluria in a 27-year-old woman". J. Am. Acad. ... Marconi V, Mofid MZ, McCall C, Eckman I, Nousari HC (February 2002). "Primary hyperoxaluria: report of a patient with livedo ... cutaneous manifestations of primary hyperoxaluria". Arch Dermatol. 136 (10): 1272-4. doi:10.1001/archderm.136.10.1272-a. PMID ... Primary hyperoxaluria, oxalosis (oxalate vasculopathy) Cytomegalovirus infection (very rare clinical form, presenting with ...
"Mutations in DHDPSL are responsible for primary hyperoxaluria type III". American Journal of Human Genetics. 87 (3): 392-9. doi ... a condition known as primary hyperoxaluria type III. GRCh38: Ensembl release 89: ENSG00000241935 - Ensembl, May 2017 GRCm38: ...
Danpure CJ (August 2005). "Primary hyperoxaluria: from gene defects to designer drugs?". Nephrology, Dialysis, Transplantation ...
This medication is used for the treatment of primary hyperoxaluria type 1 (PH1) in pediatric and adult populations. The drug is ... primary hyperoxaluria (PH) and hereditary ATTR amyloidosis as well as other cardiometabolic diseases such as hypertension and ... an RNAi Therapeutic for Primary Hyperoxaluria Type 1". New England Journal of Medicine. 384 (13): 1216-1226. doi:10.1056/ ... The primary transcripts from such genes are first processed to form the characteristic stem-loop structure of pre-miRNA in the ...
... is indicated for the treatment of primary hyperoxaluria type 1 (PH1) in adults and children of all ages. PH1 is a ... Lumasiran, sold under the brand name Oxlumo, is a medication for the treatment of primary hyperoxaluria type 1 (PH1). The most ... Clinical trial number NCT03681184 for "A Study to Evaluate Lumasiran in Children and Adults With Primary Hyperoxaluria Type 1 ( ... D'Ambrosio V, Ferraro PM (2022). "Lumasiran in the Management of Patients with Primary Hyperoxaluria Type 1: From Bench to ...
Belostotsky, Ruth; Pitt, James Jonathon; Frishberg, Yaacov (2012-12-01). "Primary hyperoxaluria type III-a model for studying ... Glyoxylate is involved in the development of hyperoxaluria, a key cause of nephrolithiasis (commonly known as kidney stones). ... These glyoxylate molecules can be oxidized into oxalate increasing its concentration and causing hyperoxaluria. Glyoxylic acid ... The disruption of glyoxylate metabolism provides an additional mechanism of hyperoxaluria development. Loss of function ...
"A Study to Evaluate DCR-PHXC in Children and Adults With Primary Hyperoxaluria Type 1 and Primary Hyperoxaluria Type 2 (PHYOX2 ... Nedosiran, sold under the brand name Rivfloza, is a medication used for the treatment of primary hyperoxaluria. It is an LDHA- ... Nedosiran is indicated to lower urinary oxalate levels in people with primary hyperoxaluria type 1. "Rivfloza (nedosiran) ... November 2022). "Nedosiran, a Candidate siRNA Drug for the Treatment of Primary Hyperoxaluria: Design, Development, and ...
Factors that promote the precipitation of oxalate crystals in the urine, such as primary hyperoxaluria, are associated with the ... Hoppe B, Langman CB (October 2003). "A United States survey on diagnosis, treatment, and outcome of primary hyperoxaluria". ... primary hyperoxaluria, or medullary sponge kidney. 3-20% of people who form kidney stones have medullary sponge kidney. Kidney ... Primary hyperoxaluria is a rare autosomal recessive condition that usually presents in childhood. Calcium oxalate crystals can ...
The reduced enzyme function can be caused by a rare inherited autosomal recessive disorder known as primary hyperoxaluria type ... is mutated in patients with primary hyperoxaluria type II". Hum. Mol. Genet. 8 (11): 2063-9. doi:10.1093/hmg/8.11.2063. PMID ... "Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a ... gene and description of mutations underlying primary hyperoxaluria type 2". Hum. Mutat. 22 (6): 497. doi:10.1002/humu.9200. ...
GeneReviews/NCBI/NIH/UW entry on Primary Hyperoxaluria Type 2 Takayama T, Nagata M, Ozono S, et al. (2007). "A novel mutation ... is mutated in patients with primary hyperoxaluria type II". Hum Mol Genet. 8 (11): 2063-9. doi:10.1093/hmg/8.11.2063. PMID ... and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2)". Hum. Genet. 107 (2): 176-85. ... Type II hyperoxaluria is caused by mutations in this gene. GRHPR mutation analysis needs to pay attention to primer design, ...
Primary hyperoxaluria is a rare, inherited condition, resulting in increased excretion of oxalate, with oxalate stones being ... An excess oxalate level in the blood is termed hyperoxalemia, and high levels of oxalate in the urine is termed hyperoxaluria. ... Many metal ions form insoluble precipitates with oxalate, a prominent example being calcium oxalate, the primary constituent of ...
Gruessner, Rainer W. (1998). "Preemptive Liver Transplantation from a Living Related Donor for Primary Hyperoxaluria Type I". ...
... however if not treated it can lead to renal dysfunction this includes primary hyperoxaluria, hypomagnesemic hypercalciuric ... Suh, Jane M.; Cronan, John J.; Monchik, Jack M. (September 2008). "Primary hyperparathyroidism: is there an increased ... Medullary sponge kidney Distal renal tubular acidosis Hyperoxaluria Renal papillary necrosis And other causes of hypercalcaemia ... These include tumor lysis syndrome, acute phosphate nephropathy, and occasional cases of enteric hyperoxaluria. ...
... type 6 Mitochondrial trifunctional protein deficiency Nonsyndromic deafness Photic sneeze reflex Primary hyperoxaluria Primary ... hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase) ALS2: amyotrophic lateral sclerosis 2 (juvenile) ALS2CR8: ... type 4 Hereditary nonpolyposis colorectal cancer Infantile-onset ascending hereditary spastic paralysis Juvenile primary ...
... nonsyndromic deafness OCD polycythemia vera porphyria primary hyperoxaluria Tangier's disease tetrasomy 9p thrombotic ...
... hyperoxaluria, primary MeSH C12.777.419.331 - hypertension, renal MeSH C12.777.419.331.490 - hypertension, renovascular MeSH ...
Some of these diseases include: · Hepatitis A, Hepatitis B, and Hepatitis C · Primary biliary cholangitis and Primary ... sclerosing cholangitis · Liver cancer, Bile duct cancer, and Liver cell adenoma · Hemochromatosis, Hyperoxaluria, and Wilson's ...
... hyperoxaluria, primary MeSH C18.452.565.100 - anemia, iron-deficiency MeSH C18.452.565.500 - iron overload MeSH C18.452.565.500 ... hyperoxaluria, primary MeSH C18.452.648.202.589 - lactose intolerance MeSH C18.452.648.202.607 - mannosidase deficiency ...
... hyperoxaluria, primary MeSH C16.320.565.202.589 - lactose intolerance MeSH C16.320.565.202.607 - mannosidase deficiency ...
Infiltrative Amyloidosis Sarcoidosis Primary hyperoxaluria Storage diseases Fabry disease Gaucher disease Hereditary ... Thus it is possible to divide the causes into primary and secondary. The common modern organization is into Infiltrative, ...
Hyperostosis corticalis generalisata Hyperostosis frontalis interna Hyperoxaluria type 1 Hyperoxaluria type 2 Hyperoxaluria ... Hyperparathyroidism Hyperparathyroidism, familial, primary Hyperparathyroidism, neonatal severe primary Hyperphalangism ... primary or idiopathic Hypertropia Hypertropic neuropathy of Dejerine-Sottas Hypertryptophanemia Hypervitaminosis A ... male mental retardation skeletal anomaly Hypogonadism mitral valve prolapse mental retardation Hypogonadism primary partial ...
... a candidate to treat primary hyperoxaluria type 1. Precision is in the process of developing multiple candidates targeting non- ...
... sarcoma Primary hyperoxaluria Primary hyperparathyroidism Primary lateral sclerosis Primary malignant lymphoma Primary muscular ... Griscelli syndrome Primary agammaglobulinemia Primary aldosteronism Primary alveolar hypoventilation Primary amenorrhea Primary ... Primary orthostatic tremor Primary progressive aphasia Primary pulmonary hypertension Primary sclerosing cholangitis Primary ... 2 Primary ciliary dyskinesia Primary craniosynostosis Primary cutaneous amyloidosis Primary granulocytic ...
Although the association is greater in the context of ulcerative colitis, Crohn's disease may also be associated with primary ... Calcium oxalate is due to hyperoxaluria typically associated with either distal ileal CD or ileal resection. Oxalate absorption ... "Primary sclerosing cholangitis, inflammatory bowel disease, and colon cancer". Seminars in Liver Disease. 26 (1): 31-41. doi: ...