Latest Advances

  • Condition: Woman with Methylmalonic Aciduria (MMA)
  • Journal: Medicina (Kaunas, Lithuania)
  • Treatment Used: Dietary Treatment
  • Number of Patients: 1
  • Published —
This article reviewed the case of a woman with methylmalonic aciduria (condition in which the body can’t breakdown certain parts of proteins and fats; MMA) who underwent dietary treatment from birth to pregnancy.
  • Condition: Diffuse Alveolar Hemorrhage and Pulmonary Microangiopathy with Cobalamin C Deficiency
  • Journal: Pediatric pulmonology
  • Treatment Used: Corticosteroids and Methylmalonic Aciduria and Homocystinuria Type C Protein (MMACHC)
  • Number of Patients: 4
  • Published —
This case report describes patients with diffuse alveolar hemorrhage and pulmonary microangiopathy with cobalamin C deficiency.
  • Condition: Propionic Acidemia or Methylmalonic Acidemia
  • Journal: Advances in therapy
  • Treatment Used: Liver Transplantation
  • Number of Patients: 373
  • Published —
The purpose of the study was to assess post liver transplantation outcomes in patients with propionic acidemia and methylmalonic acidemia.
  • Condition: Propionic Acidemia (PA) and Isolated Methylmalonic Acidemia (MMA)
  • Journal: Journal of inherited metabolic disease
  • Treatment Used: Pre-Newborn Screening (NBS)
  • Number of Patients: 83
  • Published —
This study estimated the expected health gain of newborn screening (NBS) for propionic acidemia (genetic organic disorder; PA) and isolated methylmalonic acidemia (MMA).
  • Condition: Propionic and Methylmalonic Acidemia (MMA)
  • Journal: Molecular genetics and metabolism
  • Treatment Used: Liver Transplantation (LT)
  • Number of Patients: 9
  • Published —
This study evaluated the outcomes of liver transplantation (LT) in the treatment of propionic acidemia (PA) and methylmalonic acidemia (MMA).
  • Condition: Methylmalonic Aciduria
  • Journal: Journal of inherited metabolic disease
  • Treatment Used: Kidney, Liver, or Combined Liver-Kidney Transplantation
  • Number of Patients: 23
  • Published —
The study researched the long-term outcomes of kidney, liver, or combined liver-kidney transplantation in patients with methylmalonic aciduria.
  • Condition: Propionic and Methylmalonic Acidemias (MMA)
  • Journal: Journal of inherited metabolic disease
  • Treatment Used: Gene, mRNA, or Enzyme Replacement Therapy
  • Number of Patients: 0
  • Published —
This review discusses potential therapy targets and a systematic overview on current, experimental, and unexplored treatment strategies for patients with propionic acidemia (PA) and methylmalonic acidemia(MMA).
  • Condition: Status Dystonicus with Methylmalonic Acidemia
  • Journal: Journal of neural transmission (Vienna, Austria : 1996)
  • Treatment Used: Subthalamic and Pallidal Deep Brain Stimulation
  • Number of Patients: 4
  • Published —
This study tested the safety and efficacy of using deep brain stimulation that targets either the subthalamic nucleus or the globus pallidus internus in children with status dystonicus that is refractory to medications.
  • Condition: Newborns with an inborn metabolic disease
  • Journal: Turkish journal of medical sciences
  • Treatment Used: Continuous venovenous hemodiafiltration
  • Number of Patients: 8
  • Published —
The study researched the effects of continuous venovenous hemodiafiltration (machine that acts as a filter for the blood) for newborns with an inborn metabolic disease.
  • Condition: Propionic Acidemia (PA) and Methylmalonic Acidemia (MMA)
  • Journal: Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society
  • Treatment Used: Liver Transplantation (LT)
  • Number of Patients: 9
  • Published —
This study evaluated liver transplantation (LT) and/or liver-kidney transplant in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA) (high acid levels) with additional focus on the optimization of metabolic control and management in the perioperative period.
  • Condition: Neonatal-Onset Inborn Errors of Metabolism
  • Journal: Nephrology (Carlton, Vic.)
  • Treatment Used: Renal Replacement Therapy (RRT)
  • Number of Patients: 12
  • Published —
This study reported 10-year experience using emergency . renal replacement therapy (RRT) in newborns with severe urea cycle defects (UCD), organic acidemias (OA) and maple syrup urine disease (MSUD).
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