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Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
Waisbren SE. Waisbren SE. Metab Brain Dis. 2022 Jun;37(5):1317-1335. doi: 10.1007/s11011-022-00954-1. Epub 2022 Mar 29. Metab Brain Dis. 2022. PMID: 35348993 Review.
Methylmalonic acidemia (MMA) due to methylmalonyl-CoA mutase deficiency (OMIM #251,000) is an autosomal recessive disorder of organic acid metabolism associated with life-threatening acute metabolic decompensations and significant neuropsycholog …
Methylmalonic acidemia (MMA) due to methylmalonyl-CoA mutase deficiency (OMIM #251,000) is an autosomal recessive disorder of …
Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou.
Tang C, Tan M, Xie T, Tang F, Liu S, Wei Q, Liu J, Huang Y. Tang C, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021 Aug 25;50(4):463-471. doi: 10.3724/zdxbyxb-2021-0260. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021. PMID: 34704419 Free PMC article. English.
A total of 79 cases of IMD were diagnosed, including 23 with aminoacidopathy, 17 with disorder of organic acid metabolism and 39 with fatty acid oxidation disorders, involving 21 diseases. ...A total of 79 cases of IMD were diagnosed, including …
A total of 79 cases of IMD were diagnosed, including 23 with aminoacidopathy, 17 with disorder of organic acid …
L-2 hydroxyglutaric aciduria presenting with status epilepticus.
Işikay S. Işikay S. BMJ Case Rep. 2013 Jun 7;2013:bcr2013010164. doi: 10.1136/bcr-2013-010164. BMJ Case Rep. 2013. PMID: 23749865 Free PMC article.
L-2 Hydroxyglutaric aciduria is a rare, progressive, autosomal recessively inherited metabolic disorder of organic acid metabolism. It is characterised by macrocephaly, progressive neurological syndrome with cerebellar features, mental deteriora …
L-2 Hydroxyglutaric aciduria is a rare, progressive, autosomal recessively inherited metabolic disorder of organic a …
Contribution of brain MRI in a patient diagnosed with 2-hydroxyglutaric aciduria.
Işikay S, Carman KB. Işikay S, et al. BMJ Case Rep. 2013 Jun 19;2013:bcr2013008917. doi: 10.1136/bcr-2013-008917. BMJ Case Rep. 2013. PMID: 23784758 Free PMC article.
L-2-Hydroxyglutaric aciduria is a rare autosomal recessively inherited metabolic disorder of organic acid metabolism. Clinical findings are characterised by progressive neurological syndrome with cerebellar signs, mental deterioration and macroc …
L-2-Hydroxyglutaric aciduria is a rare autosomal recessively inherited metabolic disorder of organic acid met …
Glutaric aciduria type I: a neuroimaging diagnosis?
Santos CC, Roach ES. Santos CC, et al. J Child Neurol. 2005 Jul;20(7):588-90. doi: 10.1177/08830738050200070901. J Child Neurol. 2005. PMID: 16159525
Glutaric aciduria type I is an autosomal recessive disorder of organic acid metabolism secondary to glutaryl-coenzyme A (CoA) dehydrogenase deficiency. ...
Glutaric aciduria type I is an autosomal recessive disorder of organic acid metabolism secondary to gluta …
Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.
Ledley FD, Lumetta MR, Zoghbi HY, VanTuinen P, Ledbetter SA, Ledbetter DH. Ledley FD, et al. Am J Hum Genet. 1988 Jun;42(6):839-46. Am J Hum Genet. 1988. PMID: 2897160 Free PMC article.
Deficiency of this apoenzyme causes the mut form of methylmalonic acidemia, an often fatal disorder of organic acid metabolism. An MCM cDNA has recently been obtained from human liver cDNA libraries. ...
Deficiency of this apoenzyme causes the mut form of methylmalonic acidemia, an often fatal disorder of organic acid …
L-2 hydroxyglutaric aciduria presenting with anxiety symptoms.
Gökçen C, Isikay S, Yilmaz K. Gökçen C, et al. BMJ Case Rep. 2013 Jun 6;2013:bcr2013009512. doi: 10.1136/bcr-2013-009512. BMJ Case Rep. 2013. PMID: 23749824 Free PMC article.
l-2 Hydroxyglutaric aciduria is a rare autosomal recessively inherited metabolic disorder of organic acid metabolism. Cerebellar and pyramidal signs with progressive neurological syndromes, mental deterioration, tremors, seizures, epilepsy and r …
l-2 Hydroxyglutaric aciduria is a rare autosomal recessively inherited metabolic disorder of organic acid met …
Neonatal onset propionic acidemia without acidosis: a case report.
Akman I, Imamoğlu S, Demirkol M, Alpay H, Ozek E. Akman I, et al. Turk J Pediatr. 2002 Oct-Dec;44(4):339-42. Turk J Pediatr. 2002. PMID: 12458812
Propionic acidemia is an inherited disorder of organic acid metabolism characterized by a spectrum of clinical and biochemical findings. ...
Propionic acidemia is an inherited disorder of organic acid metabolism characterized by a spectrum of cli …
Glutaric aciduria type I: value of diffusion-weighted magnetic resonance imaging for diagnosing acute striatal necrosis.
Elster AW. Elster AW. J Comput Assist Tomogr. 2004 Jan-Feb;28(1):98-100. doi: 10.1097/00004728-200401000-00016. J Comput Assist Tomogr. 2004. PMID: 14716240
Glutaric aciduria type I is a rare disorder of organic acid metabolism caused by deficiency of glutaryl-CoA dehydrogenase. ...
Glutaric aciduria type I is a rare disorder of organic acid metabolism caused by deficiency of glutaryl-C …
Propionic acidemia without acidemia: a case report.
Ramachandran R, Pietz J. Ramachandran R, et al. J Perinatol. 1995 Jan-Feb;15(1):71-3. J Perinatol. 1995. PMID: 7650559
Propionic acidemia is a recessively inherited disorder of organic acid metabolism characterized by a spectrum of clinical and biochemical findings. ...
Propionic acidemia is a recessively inherited disorder of organic acid metabolism characterized by a spec …