Brain MRI Findings as an Important Diagnostic Clue in Glutaric Aciduria Type 1

Nunes, Jacqueline Targino; Loureiro, Susana; Carvalho, Sílvia; Pais, Rui; Alfaiate, C.; Faria, Ana; Garcia, Paula; Diogo, Luísa

doi:10.1177/197140091302600204

Cited by 27 publications

(17 citation statements)

References 29 publications

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“…In the present study, case 1 exhibited headache with normal cognitive functions, and cranial MRI exhibited focal patchy T2 flair high signals in the semi-oval area, corner and anteroposterior horns of te lateral ventricle. The clinical symptoms disappeared after treatment, while cranial MRI exhibited no significant changes, consistent with previously reported literature ( 21 , 22 ).…”

Section: Discussionsupporting

confidence: 91%

Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases

Zhang

Luo

2016

Experimental and Therapeutic Medicine

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The aim of the present study was to investigate the clinical, biochemical and genetic mutation characteristics of two cases of late-onset glutaric aciduria type I (GA-I) in Uighur. The clinical data and glutaryl-CoA dehydrogenase (GCDH) genetic test results of two cases of late-onset GA-I in Uighur were collected and analyzed, and reviewed with relevant literature. One patient with late-onset GA-I primarily exhibited clinical intermittent headache, while the other patient was asymptomatic. The urinary organic acid analysis detected a large number of glutaric acid and 3-hydroxy glutaric acid, 3-hydroxy-propionic acid. One patient exhibited white matter degeneration in cranial magnetic resonance imaging (MRI) and the other patient showed no abnormality. The two patients both exhibited c. 1204C >T, p.R402W, heterozygous mutation, and c. 532G >A, p.G178R, heterozygous mutation. Besides central nervous system infectious diseases, patients with clinical headache, cranial MRI-suggested bilateral temporal lobe arachnoid cyst and abnormal signals in the basal ganglia should be highly suspected as late-onset GA-I. Early diagnosis and correct treatment are key to improve its prognosis.

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Section: Discussionsupporting

confidence: 91%

Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases

Zhang

Luo

2016

Experimental and Therapeutic Medicine

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“…3 , 4 and 59 ). There is increased T2 signal in the caudate nucleus and the putamen, with swelling and reduced diffusivity in the acute phases, evolving to atrophy over time [ 9 , 10 ]. Confluent white matter signal alterations and subependymal nodules along the lateral ventricles (Fig.…”

Section: Pathology Predominantly Affecting the Basal Gangliamentioning

confidence: 99%

Bilateral lesions of the basal ganglia and thalami (central grey matter)—pictorial review

et al. 2020

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The basal ganglia and thalami are paired deep grey matter structures with extensive metabolic activity that renders them susceptible to injury by various diseases. Most pathological processes lead to bilateral lesions, which may be symmetric or asymmetric, frequently showing characteristic patterns on imaging studies. In this comprehensive pictorial review, the most common and/or typical genetic, acquired metabolic/toxic, infectious, inflammatory, vascular and neoplastic pathologies affecting the central grey matter are subdivided according to the preferential location of the lesions: in the basal ganglia, in the thalami or both. The characteristic imaging findings are described with emphasis on the differential diagnosis and clinical context.

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“…This disorder is biochemically characterized by accumulation of GA, 3HG, and, sometimes, glutaconic acid in the body fluids and tissues, especially in the brain. 7 Diagnosis is performed by elevated levels of the metabolites in urine and C5DC in blood of patients by chromatographic methods. 3,4 Affected patients present at birth macrocephaly and frontotemporal cortical atrophy.…”

Section: Introductionmentioning

confidence: 99%

Oxidative damage in glutaric aciduria type I patients and the protective effects of l‐carnitine treatment

Guerreiro

Faverzani

Jacques

et al. 2018

J of Cellular Biochemistry

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The deficiency of the enzyme glutaryl-CoA dehydrogenase, known as glutaric acidemia type I (GA-I), leads to the accumulation of glutaric acid (GA) and glutarilcarnitine (C5DC) in the tissues and body fluids, unleashing important neurotoxic effects. l-carnitine (l-car) is recommended for the treatment of GA-I, aiming to induce the excretion of toxic metabolites. l-car has also demonstrated an important role as antioxidant and anti-inflammatory in some neurometabolic diseases. This study evaluated GA-I patients at diagnosis moment and treated the oxidative damage to lipids, proteins, and the inflammatory profile, as well as in vivo and in vitro DNA damage, reactive nitrogen species (RNS), and antioxidant capacity, verifying if the actual treatment with l-car (100 mg kg day ) is able to protect the organism against these processes. Significant increases of GA and C5DC were observed in GA-I patients. A deficiency of carnitine in patients before the supplementation was found. GA-I patients presented significantly increased levels of isoprostanes, di-tyrosine, urinary oxidized guanine species, and the RNS, as well as a reduced antioxidant capacity. The l-car supplementation induced beneficial effects reducing these biomarkers levels and increasing the antioxidant capacity. GA, in three different concentrations, significantly induced DNA damage in vitro, and the l-car was able to prevent this damage. Significant increases of pro-inflammatory cytokines IL-6, IL-8, GM-CSF, and TNF-α were shown in patients. Thus, the beneficial effects of l-car presented in the treatment of GA-I are due not only by increasing the excretion of accumulated toxic metabolites, but also by preventing oxidative damage.

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Brain MRI Findings as an Important Diagnostic Clue in Glutaric Aciduria Type 1

Cited by 27 publications

References 29 publications

Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases

Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases

Bilateral lesions of the basal ganglia and thalami (central grey matter)—pictorial review

Oxidative damage in glutaric aciduria type I patients and the protective effects of l‐carnitine treatment

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