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Glutaric Acidemia/Glutathione Synthetase Deficiency
Published in Charles Theisler, Adjuvant Medical Care, 2023
Glutaric acidemia types I (80%–90%) and II (10%–20%), also known as glutaric aciduria, are inherited disorders in which the body is unable to process certain fats and proteins properly. Because the enzyme glutathione synthetase is deficient, infants with glutaric acidemia type I (GAI) cannot break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of protein.1 Normally these amino acids are broken down into a substance called glutaric acid which is then converted into energy. The breakdown products resulting from incomplete processing of these amino acids can damage the brain.
Hyperkinetic Movement Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson
Amino acidurias (AA): Glutaric aciduria, methylmalonic aciduria.Homocystinuria.Propionic academia.
Glutaric aciduria (type I)
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Defective enzyme activity leads to glutaric aciduria, the feature by which the diagnosis is usually made. The amounts reported may be massive: 850–1700 mmol/mol creatinine [1] and 900–1200 mmol/mol creatinine [3]. Normal levels of glutaric acid in urine range from 1.1 to 8 mmol/mol creatinine [7]. However, patients with smaller amounts (80–200 mmol/mol creatinine) [3, 7] have been observed, and many patients have been reported in whom glutaric acid and other characteristic metabolites were not found in the urine [7, 14], at least until investigated with stable isotope dilution techniques. Metabolites in the urine have also been observed intermittently [50]. The other characteristic metabolites found in the urine are 3-hydroxyglutaric and glutaconic acids [19]; amounts are usually less than those of glutaric acid. On the other hand, we have seen children with documented deficiency of the enzyme in whom only 3-hydroxyglutaric was found in the urine, in the absence of accumulation of glutaric acid [6, 7]. Excretion of glutaconic acid may exceed that of 3-hydroxyglutaric acid only in an acute ketotic episode when the urine also contains 3-hydroxybutyric, acetoacetic, adipic, suberic, and sebacic acids.
Abusive head trauma in India: imaging raises the curtain
Published in International Journal of Injury Control and Safety Promotion, 2022
Hima Pendharkar, Shumyla Jabeen, Nupur Pruthi, K. V. L. N Narasinga Rao, Dhaval Shukla, Nitish Kamble, Kavita V. Jangam, John Vijay Sagar Kommu, Thennarasu Kandavel, Senthil Amudhan
Understandably in children suspected of AHT, it is important to rule out other possibilities – the mimics of AHT (Christian & States, 2017; Mankad et al., 2019). In our study also we encountered cases where an alternate diagnosis might have been possible. There were two children where AHT was suspected on imaging; these children had deranged coagulation parameters but both had incomplete lab work up. Glutaric aciduria and Menke’s Kinky hair disease are important metabolic differential possibilities in the southern part of our nation given the sociocultural trends. In one child treated for mitochondrial disorder, a coexistent SDH should have raised the suspicion of AHT. However, a comprehensive work up for all these cases would have helped to rule out other differential diagnosis.
Novel plasma metabolite markers of attention-deficit/hyperactivity disorder identified using high-performance chemical isotope labelling-based liquid chromatography-mass spectrometry
Published in The World Journal of Biological Psychiatry, 2021
Liang-Jen Wang, Wen-Jiun Chou, Ching-Shu Tsai, Min-Jing Lee, Sheng-Yu Lee, Chia-Wei Hsu, Pei-Chun Hsueh, Chih-Ching Wu
5-hydroxylysine is a hydroxylated derivative of the amino acid lysine that is present in certain collagens. Patients with glutaric aciduria type 1, an inborn error of hydroxylysine, have been found to exhibit neuroaxonal damage, demyelination, and astrocytosis in the right frontal white matter and right lentiform nuclei (Kurul et al. 2004; Radha Rama Devi et al. 2016). L-cystine is the L-enantiomer of the sulfur-containing amino acid cystine. Glutamate exported by system x(c) is largely responsible for the extracellular glutamate concentration in the brain, while imported cystine is required to synthesise the major endogenous antioxidant. L-cystine may serve as a neuroprotective protein and signalling pathway (Albrecht et al. 2010). The results of this study showed that L-cystine was strongly and positively correlated with ADHD symptoms, which suggests that patients suffering from more severe ADHD symptoms may need more L-cystine to compensate for neurodevelopment.
Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin
Published in International Journal of Neuroscience, 2020
Hongliang Xu, Xin Chen, Yajun Lian, Shuya Wang, Tuo Ji, Lu Zhang, Shuang Li
Electron transfer flavoprotein dehydrogenase (ETFDH) is a mitochondrial enzyme, which is required for electrons transfer between several mitochondrial matrix dehydrogenases and the main electron transport chain [1,2]. Mutation of this gene caused multiple acyl-CoA dehydrogenation deficiency (MADD) [3,4], also known as Glutaric aciduria II (GA2), which is an autosomal recessively inherited disorder of fatty acid, amino acid and choline metabolism (OMIM 231680). The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). In addition, MADD may be accompanied by various symptoms including vomiting, hypotonia, hyperammonemia, hepatomegaly, renal cysts, an odor of sweaty feet, and congenital anomalies [5,6]. Muscle involvement, including myalgia, weakness, exercise intolerance and lipid storage may occur, and in some cases this might be the first symptom for MADD, especially in adults [7,8].