Detection of various Organic acids (OA) and their metabolites is the key to the diagnosis of not only organic acidemias
, but through testing of certain metabolites like homogentisic acid, orotic acid and succinyl acetone, a range of conditions like homocystinuria, ornithine transcarbamoylase deficiency, and tyrosinemia Type-12, can be detected on this panel.
MMA is identified as the most common organic acidemia
in Asians in the sub-continent in literature.10,11 Reports published from Pakistan have shown high incidence of MMA but the aetiology of MMAurias has not been described.12,13 The current study was planned to determine the frequency of disorders leading to MMAuria diagnosed by urine organic acid (UOA) analysis and the outcome.
is an infrequent but real cause of altered mental status (8).
45-year-old female with propionic acidemia
, renal failure, and premature ovarian failure; late complications of propionic acidemia
Amelia-Jo had a rare genetic disorder called glutaric acidemia
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia
diagnosed by newborn screening.
This patient presented with acute kidney injury associated with severe hyperkalemia, hypoglycemia, and a profound metabolic acidemia
with elevated anion gap and serum lactate levels.
We would like to share our unique experience with the successful domino liver transplantation from a child with propionic acidemia
to a young teenager with idiopathic fulminant hepatic failure.
We also have reasonable data showing us that patients with category III tracings have a high risk of acidemia
Lonza will produce an Anc80-AAV-based gene therapy product for Selecta's proprietary programme for the treatment of Methylmalonic Acidemia
(MMA) -- a rare metabolic condition.
Lonza will produce an Anc80-AAV-based gene therapy product for Selecta's proprietary program for the treatment of methylmalonic acidemia
(MMA), a rare inborn error of metabolism, and may in the future produce other Anc80-based products for which Selecta holds exclusive options.
In the presence of acidemia
, salicylate will shift to this unionized form, which allows it to cross the blood-brain barrier, and cause central nervous system toxicity (cerebral edema, seizures, and coma).