Mevalonic aciduria is a rare autosomal recessive metabolic disorder, characterized by psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. The disorder is caused by a deficient activity of mevalonate kinase due to mutations in the encoding gene. Thus far, only two disease-causing mutations have been identified. We now report four different missens...

KODAMA, H., OKADA, S., INUI, K., YUTAKA, T. and YABUUCHI, H. Studies on ƒ¿-Ketoglutaric Aciduria in Type I Glycogenosis. Tohoku J. exp. Med., 1980, 131 (4), 347-353 Urinary excretion of the organic acids in patients with type I and III glycogenosis was investigated. In all patients with type I glycogenosis, urinary ƒ¿-ketoglutarate concentration was about 10 times the normal value. ƒ¿Ketoglutar...

Acute gastroenteritis remains a common medical problem in the pediatric population and diarrhea may be life threatening in the neonate. Organic aciduria has been observed in children with short bowel, malabsorption, and Hirschsprung’s disease,’6 and methemoglobinemia has been observed in children with acute diarrheal disease.7’5 The two infants described here, however, represent the mitial repo...

Association of 3-methylglutaconic aciduria with impaired oxidative phosphorylation, deafness, encephalopathy, leigh-like lesions on brain imaging, progressive spasticity and dystonia defined as a distinct entity under the name of MEGDEL syndrome. It is an autosomal recessive disorder due to mutation in the serine active site-containing protein 1 (SERAC1). SERAC1 is localized at the interface be...

l-2-Hydroxyglutaric aciduria (l-2-HGA) is characterized by progressive deterioration of central nervous system function including epilepsy and macrocephaly in 50% of cases, and elevated levels of l-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid (CSF). Nuclear magnetic resonance imaging shows distinct abnormalities. We report the identification of a gene for l-2-HGA aciduria (MIM...

For the past, several years, the number of the patient’s with nuclear genetic defects of the mitochondrial ATP synthase has been increased. The TMEM70 gene mutation is one of the most common nuclear encoded genes that are affecting the ATP synthase. Here, we report a 9-months-old Saudi girl presenting with lactic acidosis, 3-methylglutaconic aciduria, hypertrophic cardiomyopathy and encephalopa...

l-2-Hydroxyglutaric (l-2-HG) aciduria is a rare inherited metabolic disease usually observed in children. Patients present a very slowly progressive deterioration with cerebellar ataxia, mild or severe mental retardation, and various other clinical signs including extrapyramidal and pyramidal symptoms, and seizures Goffette et al. [1]. This leukencephalopathy was first described in 1980 Duran e...

BACKGROUND Hyperammonemia in patients with methylmalonic aciduria (MMA) and propionic aciduria (PA) is caused by accumulation of propionyl-CoA which decreases the synthesis of N-acetyl-glutamate, the natural activator of carbamyl phosphate synthetase 1. A treatment approach with carglumic acid, the structural analogue of N-acetyl-glutamate, has been proposed to decrease high ammonia levels enco...