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.
Causes of nonhepatic hyperammonemia * Urease-producing bacteria (Proteus, Klebsiella, Escherichia, and Morganella species, Helicobacter pylori) * Drugs (valproic acid, 5-fluorouracil, carbamazepine) * Surgery (bariatric surgery, ureterosigmoidostomy, lung and bone marrow transplants) * Hyperalimentation (total parenteral nutrition) * Anatomic (portosystemic shunts) * Errors in metabolism (urea cycle disorder, fatty acid oxidation defect, organic acidemia
, pyruvate metabolism disorder) Figure 1.
In addition, irritability, poor feeding, failure to thrive, hypotonia, and seizures place the infantile type in a broad differential diagnosis that includes inborn errors of energy metabolism, organic acidemia
, and non-accidental trauma.
I came away from the weekend with extreme gratitude to Children's National Medical Center, (Section of Genetics & Metabolism,) FOD Family Support Group and Organic Acidemia
Association for hosting and planning the conference.
(4) The TMS could identify about 30 different metabolic diseases belonging to aminoacidopathies, urea cycle disorders, organic acidemia
, and fatty acid oxidation disorders by analyzing amino acids and acylcarnitine levels on DBS sample.
Jana Monaco who, in addition to being a parent, serves as president of the Organic Acidemia
Assocation, agrees that an important part of long-term follow-up is the ability to conduct research to benefit patients.
IVA is an organic acidemia
and was discovered by Dr.
Automated metabolic profiling and interpretation of GC/MS data for organic acidemia
screening: a personal computer-based system.
Ethylmalonic aciduria: an organic acidemia
with CNS involvement and vasculopathy.
Therefore, the percentage of unknown deaths that were a result of a FAO defect or an organic acidemia
(detectable by MS /MS) can be estimated at 5% among the SIDS population or 0.55% within the population of total infant deaths.
Three years ago, I took over the Organic Acidemia