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About 529 results

ALLMedicine™ Propionic Acidemia Center

Research & Reviews  263 results

Pancreatic involvement in patients with inborn errors of metabolism.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7819202
Orphanet Journal of Rare Diseases; Hwang WJ, Lim HH et. al.

Jan 21st, 2021 - Repeated inflammation of the pancreas can cause pancreatitis or diabetes. It is well recognized that the organic acidemias may be complicated by pancreatitis but less recognized are other metabolic disorders in which pancreatitis can occur. This s...

High protein prescription in methylmalonic and propionic acidemia patients and its nega...
https://doi.org/10.1016/j.clnu.2020.12.027
Clinical Nutrition (Edinburgh, Scotland); Molema F, Haijes HA et. al.

Jan 16th, 2021 - Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inborn errors of metabolism. While survival of MMA and PA patients has improved in recent decades, long-term outcome is still unsatisfactory. A protein restricted diet is the mainstay fo...

Fatal metabolic stroke in a child with propionic acidemia 11 years post liver transplant.
https://doi.org/10.1111/ajt.16400
American Journal of Transplantation : Official Journal Of... Sivananthan S, Hadžić N et. al.

Nov 18th, 2020 - Propionic acidemia is a rare autosomal recessive inborn error of metabolism caused by a deficiency of propionyl CoA carboxylase which often manifests with frequent metabolic decompensations and risk of neurological injury. Outcomes with medical th...

Propionic acidemia identified in twin siblings conceived by in vitro fertilization (IVF...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7659086
BMC Pregnancy and Childbirth; Tian Y, Wang G et. al.

Nov 13th, 2020 - Propionic acidemia (PA) is a severe monogenic disorder characterized by a deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) enzyme, which is caused by mutations in the PCCA or PCCB gene. Preconception carrier screening could ...

Liver Transplantation for Propionic Acidemia: Evidence from A Systematic Review and Met...
https://doi.org/10.1097/TP.0000000000003501
Transplantation Zhou GP, Jiang YZ et. al.

Oct 23rd, 2020 - The worldwide experience of liver transplantation (LT) in the treatment of propionic acidemia (PA) remains limited and fragmented. This review aims to provide a comprehensive and quantitative understanding of post-transplant clinical outcomes in P...

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Drugs  1 results see all →

Clinicaltrials.gov  265 results

Pancreatic involvement in patients with inborn errors of metabolism.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7819202
Orphanet Journal of Rare Diseases; Hwang WJ, Lim HH et. al.

Jan 21st, 2021 - Repeated inflammation of the pancreas can cause pancreatitis or diabetes. It is well recognized that the organic acidemias may be complicated by pancreatitis but less recognized are other metabolic disorders in which pancreatitis can occur. This s...

High protein prescription in methylmalonic and propionic acidemia patients and its nega...
https://doi.org/10.1016/j.clnu.2020.12.027
Clinical Nutrition (Edinburgh, Scotland); Molema F, Haijes HA et. al.

Jan 16th, 2021 - Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inborn errors of metabolism. While survival of MMA and PA patients has improved in recent decades, long-term outcome is still unsatisfactory. A protein restricted diet is the mainstay fo...

Carbaglu - carglumic acid tablet-Recordati Rare Diseases
https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=10175e73-5172-4dde-a508-8a88b7afc0a1

Jan 14th, 2021 - CARBAGLU is a carbamoyl phosphate synthetase 1 (CPS 1) activator indicated in pediatric and adult patients as: Adjunctive therapy to standard of care for the treatment of acute hyperammonemia due to N-acetylglutamate synthase (NAGS) deficiency. (1...

Fatal metabolic stroke in a child with propionic acidemia 11 years post liver transplant.
https://doi.org/10.1111/ajt.16400
American Journal of Transplantation : Official Journal Of... Sivananthan S, Hadžić N et. al.

Nov 18th, 2020 - Propionic acidemia is a rare autosomal recessive inborn error of metabolism caused by a deficiency of propionyl CoA carboxylase which often manifests with frequent metabolic decompensations and risk of neurological injury. Outcomes with medical th...

Propionic acidemia identified in twin siblings conceived by in vitro fertilization (IVF...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7659086
BMC Pregnancy and Childbirth; Tian Y, Wang G et. al.

Nov 13th, 2020 - Propionic acidemia (PA) is a severe monogenic disorder characterized by a deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) enzyme, which is caused by mutations in the PCCA or PCCB gene. Preconception carrier screening could ...

see more →