patients with organic acidemia are prone to different infections, which lead to acidosis episodes. some studies have evaluated the status of immune system in acidotic phase in these patients, but to the best of our knowledge no study has evaluated the immune system in non-acidotic phase of the disease. in this study, thirty-one patients with organic acidemia were enrolled. for evaluation of hum...

a clinical presentation of a metabolic disorder, often first seen in infants who present with poor feeding, vomiting, tachypnea, acidosis, hyperammonemia, ketosis, ketonuria, irritability, and convulsions or hypotonia and lethargy, findings that are otherwise suggestive of neonatal sepsis diseases with oa isovaleric and propionic acidemias, maple syrup urine disease, medium chain acyl dehydroge...

immidiate managementinfants and children with acute metabolic crisis require immediate treatment to prevent further acute deterioration and long-term sequelae.early and appropriate treatment before confirmation of the diagnosis is life-saving.eliminate intake of the precursors of possibly toxic metabolites.this applies most often to suspected inborn errors of amino acid or organic acid metaboli...

Isovaleric acidemia is a rare branched-chain organic acidemia. The authors describe a 3.5-year-old girl with isovaleric acidemia and acute abdominal pain associated with bilious emesis. Elevated serum amylase and abdominal ultrasonography demonstrating an enlarged and edematous pancreas, along with the presence of peripancreatic exudates, confirmed the presence of acute pancreatitis. The patien...

organic academia are diverse group of disorders characterized by abnormal degredation of specific amino acid in the specific catabolism due to an enzymeactivity defect which mainly due to enzyme deficiency. the majority of the classic organic acid disorders are caused by abnormal catabolism of branched-chain amino acids like lysine. maple syrup urine disease (msud), propionic acidemia, methylma...

how to cite this article: najafi r, hashemipour m, mostofizadeh n, ghazavi mr, nasiri j, shahsanai a, famori f, najafi f, moafi m. demographic and clinical findings in pediatric patients affected by organic acidemia. iran j child neurol. spring 2016; 10(2): 74-81. abstract objective metabolic disorders, which involve many different organs, can be ascribed to enzyme deficiency or dysfunction and...

organic acid occur as physiologic intermediates in variety of intracellular metabolic pathways, such as catabolism of aminoacid, mitochondrial β oxidation of fatty acids, tricarboxilic acid cycle, and cholestrol and fatty acid biosynthesis. the classical organic aciduria represent the pursuit of abnormalities of aminoacid degradation beyond deamination their diagnostic hallmark is an accumulati...

organic acidemias, also known as organic acidurias, are a group of disorders characterized by increased excretion of organic acids in urine. they result primarily from deficiencies of specific enzymes in the breakdown pathways of amino acids or from enzyme deficiencies in beta oxidation of fatty acids or carbohydrate metabolism. organic acids also are found in the urine of some patients with mi...

inborn errors of organic acid metabolism are relatively recently recognized diseases with a wide spectrum of clinical signs and symptoms: ranging from asymptomatic, normal appearing children to death during first few days of life.in my presentation i will try to explain some of the most common clinical presentation of these disorder with stress on neurologic findings. organic acidemia usually h...

For some years now, urinary amino acid screening for inborn errors of metabolism has been routine in many institutions. In the early 1960’s, Cox and White (1) as well as Barness et a!. (2) showed the importance of measuring methylmalonate excretion in the urine of patients suffering from pernicious anemia. Since that time, detection of non-nitrogenous organic acids has taken on an importance si...