Results We diagnosed 148 cases of IEM by urine GC-MS analysis, including 97 cases of organic acid disorders, 41 cases of amion acid disorders and 10 cases of fatty acid oxidative disorders. Methylmalonic aciduria (MMA) was most common (48 cases), followed by urea cycle disorder (21 cases), phenylketonuria (20 cases), propionic aciduria (11 cases), multiple carboxylase deficiency (8 cases), glut...

To the Editor : Isobutyryl-CoA dehydrogenase (IBD) deficiency is a very rare autosomal recessive metabolic disorder that is related to valine catabolism. Inherited metabolic disorders (IMDs) with an increase in C4 acylcarnitine include IBD deficiency, shortchain acyl-CoA dehydrogenase (SCAD) deficiency, ethylmalonic encephalopathy, multiple acyl-CoA dehydrogenase deficiency and formiminoglutami...

Ethylmalonic acid (EMA) accumulates in tissues and biological fluids of patients affected by short-chain acyl-CoA dehydrogenase deficiency (SCADD) and ethylmalonic encephalopathy, illnesses characterized by neurological and muscular symptoms. Considering that the mechanisms responsible for the brain and skeletal muscle damage in these diseases are poorly known, in the present work we investigat...

Organic acidurias are an important group of inherited metabolic disorders that affect the intermediary metabolic pathways of carbohydrate, amino acid, and fatty acid oxidation, leading to the accumulation of organic acids.(1) The 2-hydroxyglutaric acidurias are rare neurometabolic disorders characterized by developmental delay with or without other neurologic dysfunction. Three different subtyp...

Positive-ion thermospray liquid chromatography-mass spectrometry (TSP-LC-MS) is used to detect organic acids via the direct injection of untreated urine from newborns and infants. Two methods are reported for the separation of organic acids. The separation of urinary organic acids is effected in either an acidic, pH 2.5 sulfuric acid, or a non-acidic, 0.05 M ammonium acetate, pH 6.8, mobile pha...

We report a Kuwaiti girl with ethylmalonic encephalopathy. She presented at the age of 4 months with chronic mucoid diarrhea and delayed psychomotor development, and at 6 months she developed myoclonic epilepsy. She was found to have central hypotonia with pyramidal tract signs, acrocyanosis, and petechiae. Plasma lactate level was elevated. Blood spot and urine for organic acids results were c...

We encountered a patient with methylmalonic aciduria associated with skin lesions resembling acrodermatitis enteropathica. This child was being fed with a low-protein diet when the skin disorder developed. A deficiency in plasma levels isoleucine, was confirmed. Supplementation of a high-caloric, protein-rich diet led to a prompt improvement of skin lesions. We assume that in our patient the sk...

ethylmalonic encephalopathy (ee) is an autosomally recessive inherited disorder with a relentlessly progressive decline in neurological function, usually fatal by the age of ten. it is characterised by generalised hypotonia, psychomotor regression, spastic tetraparesis, dystonia, seizures and, eventually, global neurological failure. approximately 50 reports have been published worldwide descri...