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3-Methylglutaconyl-CoA hydratase deficiency (MGA1) is a defect in leucine catabolism, which causes the accumulation of urinary 3-methylglutaconate, with or without 3-hydroxyisovalerate and 3-methylglutarate. It is an ultra-rare condition, with <30 cases published in the literature. It is unclear whether the clinical features seen in reported patients are caused by the biochemical abnormalities, or whether they simply represent an ascertainment bias in patients that come to clinical attention.
View Article and Find Full Text PDF3-Methylglutaconic Aciduria Type I Due to Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.
Int J Mol Sci
April 2022
Department of Human Neuroscience, Sapienza University of Rome, 00185 Rome, Italy.
Article Synopsis
- 3-Methylglutaconic aciduria type I (MGCA1) is a genetic condition affecting leucine breakdown, caused by mutations in the gene for an enzyme called MGH, impacting patients differently, from no symptoms to severe brain issues.
- A 31-month-old girl was referred for early signs detected in newborn screening, showing elevated levels of specific metabolites related to MGCA1, but initial genetic tests didn’t confirm a diagnosis.
- Further tests revealed decreased MGH activity and confirmed gene microdeletions, prompting treatment with levocarnitine and dietary changes; the patient showed mild symptoms, highlighting the need for interdisciplinary collaboration in diagnosing metabolic disorders.
Acute Encephalopathic Presentation of 3-Methylglutaconic Aciduria Type I With a Novel Mutation in AUH Gene.
Cureus
December 2020
Pediatrics, Prathima Institute of Medical Sciences, Karimnagar, IND.
3-Methylglutaconic aciduria type I (3-MGA I) is a rare inherited disorder of the leucine metabolism pathway due to mutations in the AUH gene for 3-methylglutaconyl-CoA hydratase enzyme and enzyme deficiency. It has a variable phenotypic presentation from infancy to adulthood. Here, we report a three-year-old female patient with normal development presented with acute encephalopathy and status dystonicus.
View Article and Find Full Text PDFPrecocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel gene mutation.
Mol Genet Metab Rep
December 2020
Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000 Ljubljana, Slovenia.
3-methylglutaconic aciduria type 1 (3-MGA-I) (MIM ID #250950) is an ultra-rare, autosomal recessive organic aciduria, resulting from mutated gene, leading to the deficient 3-methylglutaconyl-CoA hydratase (3-MGH). Only around 40 cases are previously reported, caused by a spectrum of 10 mutations. The clinical spectrum of 3-MGA-I in children is heterogeneous, varying from asymptomatic individuals to mild neurological impairment, speech delay, quadriplegia, dystonia, choreoathetoid movements, severe encephalopathy, psychomotor retardation, basal ganglia involvement.
View Article and Find Full Text PDFTranscription factor MoMsn2 targets the putative 3-methylglutaconyl-CoA hydratase-encoding gene MoAUH1 to govern infectious growth via mitochondrial fusion/fission balance in Magnaporthe oryzae.
Environ Microbiol
February 2021
Department of Plant Pathology, College of Plant Protection, Nanjing Agricultural University, and Key Laboratory of Integrated Management of Crop Diseases and Pests, Ministry of Education, Nanjing, 210095, China.
Mitochondrial quality and quantity are essential for a cell to maintain normal cellular functions. Our previous study revealed that the transcription factor MoMsn2 plays important roles in the development and virulence of Magnaporthe oryzae. However, to date, no study has reported its underlying regulatory mechanism in phytopathogens.
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