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Metabolic Evaluation in Children aged 3 months to 2 years with Global Developmental Delay.
Indian J Pediatr
December 2023
Department of Pediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Objectives: To study the clinical profile and role of metabolic evaluation in children aged 3 mo to 2 y with global developmental delay (GDD) of unclear etiology.
Methods: In this prospective study, demographic and clinical data along with first line metabolic test results [blood glucose, arterial blood sample analysis, renal function tests, uric acid, serum electrolytes, liver function tests (LFTs), plasma ammonia, arterial blood lactate and pyruvate, urine ketone/ reducing substances] were documented and analyzed. Tandem Mass Spectroscopy (TMS) and Gas Chromatography and Mass Spectrometry (GC-MS) data were also analysed.
Ethylmalonic encephalopathy masquerading as meningococcemia.
Cold Spring Harb Mol Case Stud
February 2022
Monash Genetics, Monash Health, Melbourne, Victoria, Australia.
Ethylmalonic encephalopathy (MIM #602473) is a rare autosomal recessive metabolic condition caused by biallelic variants in (MIM #608451), characterized by global developmental delay, infantile hypotonia, seizures, and microvascular damage. The microvascular changes result in a pattern of relapsing spontaneous diffuse petechiae and purpura, positional acrocyanosis, and pedal edema, hemorrhagic suffusions of mucous membranes, and chronic diarrhea. Here, we describe an instructive case in which ethylmalonic encephalopathy masqueraded as meningococcal septicemia and shock.
View Article and Find Full Text PDFCase Series of Ethylmalonic Encephalopathy from Southern India.
J Pediatr Genet
September 2023
Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
Ethylmalonic encephalopathy is a rare neurometabolic disorder with central nervous system involvement and vasculopathy. It is presented in infancy with developmental delay, acrocyanosis, petechiae, chronic diarrhea, and early death. This was a retrospective study of confirmed cases of ethylmalonic aciduria from a tertiary care hospital over a period of 5 years from January 2015 to December 2020.
View Article and Find Full Text PDFVariants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?
J Inherit Metab Dis
September 2021
Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark.
Ethylmalonic acid (EMA) is a major and potentially cytotoxic metabolite associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency, a condition whose status as a disease is uncertain. Unexplained high EMA is observed in some individuals with complex neurological symptoms, who carry the SCAD gene (ACADS) variants, c.625G>A and c.
View Article and Find Full Text PDFDetection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish population.
Turk J Pediatr
August 2021
Division of Metabolism, Hacettepe University Children Hospital Ankara, Turkey.
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare inborn error of mitochondrial fatty acid oxidation and protein misfolding disorder. Our aim was to detect the number of Turkish patients diagnosed with SCADD in the literature and to determine the allele frequencies of two common variants (c.511C > T and c.
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