Abstract
The first reported national case of glutaric aciduria type I is presented. This pathology is part of the congenital errors of metabolism; It is produced by deficiency of the enzyme glutaryl coenzyme A dehydrogenase involved in the catabolism of L-lysine, L-hydroxylysine and L-tryptophan, which causes the storage of glutaric and 3 hydroxyglutaric acids in the central nervous system. A clinical case with late diagnosis is described and corresponding to a form of insidious presentation of the disease. The clinical, imaging and metabolic integration allowed to establish a diagnosis of type I glutaric aciduria.
Keywords: Inborn Errors of Amino Acid Metabolism; Glutaric Aciduria Type I; Dystonic Tetraparesis
References
- Cerisola A., et al. “Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I”. Pediatric Neurology 40.6 (2009): 426-431.
- Forero Sánchez., et al. “Acidemia glutárica tipo 1: presentación de un caso y revisión de la literature”. Iatreia 28.2 (2015): 193-197.
- Barreiro A., et al. “Aciduria glutárica tipo I. Descripción del primer caso clínico nacional”. Revista Médica del Uruguay 20.3 (2004): 221-227.
- Goodman SI., et al. “Glutaric aciduria: a new inborn error of amino acid metabolism”. Biochemia Medica 12 (1975): 12-21.
- McClelland VM., et al. “Glutaric aciduria type 1 presenting with epilepsy”. Developmental Medicine and Child Neurology 51.3 (2009): 235-239.
- Hedlund GL., et al. “Glutaric acidemia type 1”. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics 142C.2 (2006): 86-94.
- Brismar J and Ozand PT. “CT and MR of the brain in glutaric acidemia type I: a review of 59 published cases and a report of 5 new patients”. American Journal of Neuroradiology 16.4 (1995): 675-683.
- Ortiz A., et al. “Glutaric aciduria type 1”. Acta Neurológica Colombiana 28 (2011): 157-165.
- Sarangi PK., et al. “Glutaric Aciduria Type I: A Rare Metabolic Disorder Mimicking as Choreoathetoid Cerebral Palsy”. Journal of Pediatric Neurosciences 12.1 (2017): 85-86.
- Heringer J., et al. “Use of guidelines improves the neurological outcome in glutaric aciduria type I”. Annals of Neurology 68.5 (2010): 743-752.
- Boy N., et al. “Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision”. Journal of Inherited Metabolic Disease 40.1 (2017): 75-101.
- Wang Q and Yang YL. “[Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1]”. Zhongguo Dang Dai Er Ke Za Zhi 18.5 (2016): 460-465.
- Tsai FC., et al. “Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes”. Journal of the Chinese Medical Association 80.4 (2017): 253-261.
- Lindner M., et al. “Neonatal screening for glutaryl-CoA dehydrogenase deficiency”. Journal of Inherited Metabolic Disease 27 (2004): 851-859.
Journal Menu
PubMed Indexed Article
EC Pharmacology and Toxicology
LC-UV-MS and MS/MS Characterize Glutathione Reactivity with Different Isomers (2,2' and 2,4' vs. 4,4') of Methylene Diphenyl-Diisocyanate.
PMID: 31143884 [PubMed]
PMCID: PMC6536005
EC Pharmacology and Toxicology
Alzheimer's Pathogenesis, Metal-Mediated Redox Stress, and Potential Nanotheranostics.
PMID: 31565701 [PubMed]
PMCID: PMC6764777
EC Neurology
Differences in Rate of Cognitive Decline and Caregiver Burden between Alzheimer's Disease and Vascular Dementia: a Retrospective Study.
PMID: 27747317 [PubMed]
PMCID: PMC5065347
EC Pharmacology and Toxicology
Will Blockchain Technology Transform Healthcare and Biomedical Sciences?
PMID: 31460519 [PubMed]
PMCID: PMC6711478
EC Pharmacology and Toxicology
Is it a Prime Time for AI-powered Virtual Drug Screening?
PMID: 30215059 [PubMed]
PMCID: PMC6133253
EC Psychology and Psychiatry
Analysis of Evidence for the Combination of Pro-dopamine Regulator (KB220PAM) and Naltrexone to Prevent Opioid Use Disorder Relapse.
PMID: 30417173 [PubMed]
PMCID: PMC6226033
EC Anaesthesia
Arrest Under Anesthesia - What was the Culprit? A Case Report.
PMID: 30264037 [PubMed]
PMCID: PMC6155992
EC Orthopaedics
Distraction Implantation. A New Technique in Total Joint Arthroplasty and Direct Skeletal Attachment.
PMID: 30198026 [PubMed]
PMCID: PMC6124505
EC Pulmonology and Respiratory Medicine
Prevalence and factors associated with self-reported chronic obstructive pulmonary disease among adults aged 40-79: the National Health and Nutrition Examination Survey (NHANES) 2007-2012.
PMID: 30294723 [PubMed]
PMCID: PMC6169793
EC Dental Science
Important Dental Fiber-Reinforced Composite Molding Compound Breakthroughs
PMID: 29285526 [PubMed]
PMCID: PMC5743211
EC Microbiology
Prevalence of Intestinal Parasites Among HIV Infected and HIV Uninfected Patients Treated at the 1o De Maio Health Centre in Maputo, Mozambique
PMID: 29911204 [PubMed]
PMCID: PMC5999047
EC Microbiology
Macrophages and the Viral Dissemination Super Highway
PMID: 26949751 [PubMed]
PMCID: PMC4774560
EC Microbiology
The Microbiome, Antibiotics, and Health of the Pediatric Population.
PMID: 27390782 [PubMed]
PMCID: PMC4933318
EC Microbiology
Reactive Oxygen Species in HIV Infection
PMID: 28580453 [PubMed]
PMCID: PMC5450819
EC Microbiology
A Review of the CD4 T Cell Contribution to Lung Infection, Inflammation and Repair with a Focus on Wheeze and Asthma in the Pediatric Population
PMID: 26280024 [PubMed]
PMCID: PMC4533840
EC Neurology
Identifying Key Symptoms Differentiating Myalgic Encephalomyelitis and Chronic Fatigue Syndrome from Multiple Sclerosis
PMID: 28066845 [PubMed]
PMCID: PMC5214344
EC Pharmacology and Toxicology
Paradigm Shift is the Normal State of Pharmacology
PMID: 28936490 [PubMed]
PMCID: PMC5604476
EC Neurology
Examining those Meeting IOM Criteria Versus IOM Plus Fibromyalgia
PMID: 28713879 [PubMed]
PMCID: PMC5510658
EC Neurology
Unilateral Frontosphenoid Craniosynostosis: Case Report and a Review of the Literature
PMID: 28133641 [PubMed]
PMCID: PMC5267489
EC Ophthalmology
OCT-Angiography for Non-Invasive Monitoring of Neuronal and Vascular Structure in Mouse Retina: Implication for Characterization of Retinal Neurovascular Coupling
PMID: 29333536 [PubMed]
PMCID: PMC5766278
EC Neurology
Longer Duration of Downslope Treadmill Walking Induces Depression of H-Reflexes Measured during Standing and Walking.
PMID: 31032493 [PubMed]
PMCID: PMC6483108
EC Microbiology
Onchocerciasis in Mozambique: An Unknown Condition for Health Professionals.
PMID: 30957099 [PubMed]
PMCID: PMC6448571
EC Nutrition
Food Insecurity among Households with and without Podoconiosis in East and West Gojjam, Ethiopia.
PMID: 30101228 [PubMed]
PMCID: PMC6086333
EC Ophthalmology
REVIEW. +2 to +3 D. Reading Glasses to Prevent Myopia.
PMID: 31080964 [PubMed]
PMCID: PMC6508883
EC Gynaecology
Biomechanical Mapping of the Female Pelvic Floor: Uterine Prolapse Versus Normal Conditions.
PMID: 31093608 [PubMed]
PMCID: PMC6513001
EC Dental Science
Fiber-Reinforced Composites: A Breakthrough in Practical Clinical Applications with Advanced Wear Resistance for Dental Materials.
PMID: 31552397 [PubMed]
PMCID: PMC6758937
EC Microbiology
Neurocysticercosis in Child Bearing Women: An Overlooked Condition in Mozambique and a Potentially Missed Diagnosis in Women Presenting with Eclampsia.
PMID: 31681909 [PubMed]
PMCID: PMC6824723
EC Microbiology
Molecular Detection of Leptospira spp. in Rodents Trapped in the Mozambique Island City, Nampula Province, Mozambique.
PMID: 31681910 [PubMed]
PMCID: PMC6824726
EC Neurology
Endoplasmic Reticulum-Mitochondrial Cross-Talk in Neurodegenerative and Eye Diseases.
PMID: 31528859 [PubMed]
PMCID: PMC6746603
EC Psychology and Psychiatry
Can Chronic Consumption of Caffeine by Increasing D2/D3 Receptors Offer Benefit to Carriers of the DRD2 A1 Allele in Cocaine Abuse?
PMID: 31276119 [PubMed]
PMCID: PMC6604646
EC Anaesthesia
Real Time Locating Systems and sustainability of Perioperative Efficiency of Anesthesiologists.
PMID: 31406965 [PubMed]
PMCID: PMC6690616
EC Pharmacology and Toxicology
A Pilot STEM Curriculum Designed to Teach High School Students Concepts in Biochemical Engineering and Pharmacology.
PMID: 31517314 [PubMed]
PMCID: PMC6741290
EC Pharmacology and Toxicology
Toxic Mechanisms Underlying Motor Activity Changes Induced by a Mixture of Lead, Arsenic and Manganese.
PMID: 31633124 [PubMed]
PMCID: PMC6800226
EC Neurology
Research Volunteers' Attitudes Toward Chronic Fatigue Syndrome and Myalgic Encephalomyelitis.
PMID: 29662969 [PubMed]
PMCID: PMC5898812
EC Pharmacology and Toxicology
Hyperbaric Oxygen Therapy for Alzheimer's Disease.
PMID: 30215058 [PubMed]
PMCID: PMC6133268
News and Events
January Issue Release
We always feel pleasure to share our updates with you all. Here, notifying you that we have successfully released the January issue of respective journals and can be viewed in the current issue pages.
Submission Deadline for January Issue
Ecronicon delightfully welcomes all the authors around the globe for effective collaboration with an article submission for the January issue of respective journals. Submissions are accepted on/before January 30, 2021.
Certificate of Publication
Ecronicon honors with a "Publication Certificate" to the corresponding author by including the names of co-authors as a token of appreciation for publishing the work with our respective journals.
Best Article of the Issue
Editors of respective journals will always be very much interested in electing one Best Article after each issue release. The authors of the selected article will be honored with a "Best Article of the Issue" certificate.
Certifying for Review
Ecronicon certifies the Editors for their first review done towards the assigned article of the respective journals.
Latest Articles
The latest articles will be updated immediately on the articles in press page of the respective journals.
Immediate Assistance
The prime motto of this team is to clarify all the queries without any delay or hesitation to avoid the inconvenience. For immediate assistance on your queries please don't hesitate to drop an email to editor@ecronicon.uk