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Inherited metabolic disorders

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https://www.readbyqxmd.com/read/29773783/cholesteryl-ester-storage-disease-fatal-outcome-without-causal-therapy-in-a-female-patient-with-the-preventable-sequelae-of-progressive-liver-disease-after-many-years-of-mild-symptoms
#1
Ali Canbay, Meike N Müller, Stathis Philippou, Guido Gerken, Andreas Tromm
BACKGROUND Cholesteryl ester storage disease (CESD), also known as lysosomal acid lipase deficiency (LAL-D), is a rare autosomal-recessive inheritable lysosomal storage disease. Since 2015, a causal treatment with sebelipase alfa, which replaces the missing LAL enzyme, has been approved. We report a fatal course of LAL-D in a female patient. CASE REPORT In 1979, CESD was first diagnosed in a 13-year-old female with marked hepatomegaly. At that time, no specific treatment for CESD was available and the spontaneous course of the disease had to be awaited...
May 18, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29769109/valproate-induced-hyperammonemia-uncovering-an-underlying-inherited-metabolic-disorder-a-case-report
#2
Shaine Mehta, Sarrah Tayabali, Robin Lachmann
BACKGROUND: Sodium valproate is a commonly used anticonvulsant. It is widely recognized that valproate can cause hyperammonemia, particularly in people with underlying liver disease. Patients with urea cycle disorders are genetically predisposed to this adverse event and can develop severe hyperammonemia if given valproate. This can occur even if liver functions tests and plasma concentration of valproate are normal, highlighting the importance of checking ammonia levels in any patient presenting with encephalopathy...
May 17, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29768370/a-case-report-of-neurological-complications-owing-to-lately-diagnosed-hyperargininemia-emphasizing-the-role-of-national-neonatal-screening-policies-in-the-kingdom-of-bahrain
#3
Moiz Bakhiet, Aminah M I AlAwadi, Maryam M AlHammadi, Maryam F Ali, Noora Butti
INTRODUCTION: Arginine is an essential amino acid that plays an important role in various body functions including cell division, wound healing, removal of ammonia, immune function, and release of hormones. Hyperargininemia, an autosomal recessive genetic disorder, is considered one of the least common urea cycle disorders. It rarely presents in the neonatal period but rather appears in children at the age between 2 and 4 years. CASE PRESENTATION: Herein, we demonstrate a case of a 14-year-old female who presented to the neurology clinic with several neurological complications, which were found to be a consequence of high levels of arginine discovered after performing a metabolic screening test...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29759592/ccdc115-cdg-a-new-rare-and-misleading-inherited-cause-of-liver-disease
#4
Muriel Girard, Aurélia Poujois, Monique Fabre, Florence Lacaille, Dominique Debray, Marlène Rio, François Fenaille, Sophie Cholet, Coralie Ruel, Elizabeth Caussé, Janick Selves, Laure Bridoux-Henno, France Woimant, Thierry Dupré, Sandrine Vuillaumier-Barrot, Nathalie Seta, Laurent Alric, Pascale de Lonlay, Arnaud Bruneel
Congenital disorders of glycosylation (CDG) linked to defects in Golgi apparatus homeostasis constitute an increasing part of these rare inherited diseases. Among them, COG-CDG, ATP6V0A2-CDG, TMEM199-CDG and CCDC115-CDG have been shown to disturb Golgi vesicular trafficking and/or lumen pH acidification. Here, we report 3 new unrelated cases of CCDC115-CDG with emphasis on diagnosis difficulties related to strong phenotypic similarities with mitochondriopathies, Niemann-Pick disease C and Wilson Disease. Indeed, while two individuals clinically presented with early and severe liver fibrosis and cirrhosis associated with neurological symptoms, the other one "only" showed isolated and late severe liver involvement...
May 9, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29757724/neuroimaging-findings-of-organic-acidemias-and-aminoacidopathies
#5
Nihaal Reddy, Sonia F Calloni, Hilary J Vernon, Eugen Boltshauser, Thierry A G M Huisman, Bruno P Soares
Although individual cases of inherited metabolic disorders are rare, overall they account for a substantial number of disorders affecting the central nervous system. Organic acidemias and aminoacidopathies include a variety of inborn errors of metabolism that are caused by defects in the intermediary metabolic pathways of carbohydrates, amino acids, and fatty acid oxidation. These defects can lead to the abnormal accumulation of organic acids and amino acids in multiple organs, including the brain. Early diagnosis is mandatory to initiate therapy and prevent permanent long-term neurologic impairments or death...
May 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29756227/the-genetic-nomenclature-of-recessive-cerebellar-ataxias
#6
REVIEW
Malco Rossi, Mathieu Anheim, Alexandra Durr, Christine Klein, Michel Koenig, Matthis Synofzik, Connie Marras, Bart P van de Warrenburg
The recessive cerebellar ataxias are a large group of degenerative and metabolic disorders, the diagnostic management of which is difficult because of the enormous clinical and genetic heterogeneity. Because of several limitations, the current classification systems provide insufficient guidance for clinicians and researchers. Here, we propose a new nomenclature for the genetically confirmed recessive cerebellar ataxias according to the principles and criteria laid down by the International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders...
May 14, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29754208/serum-amino-acid-profiling-in-patients-with-alkaptonuria-before-and-after-treatment-with-nitisinone
#7
A S Davison, B P Norman, E A Smith, J Devine, J Usher, A T Hughes, M Khedr, A M Milan, J A Gallagher, L R Ranganath
BACKGROUND: Alkaptonuria (AKU) is a rare inherited disorder of the tyrosine metabolic pathway. Our group is evaluating the use of the homogentisic acid-lowering agent nitisinone in patients with AKU. A major biochemical consequence of this treatment is hypertyrosinaemia. Herein we report the concentration of 20 serum amino acids over a 36-month period pre- and post-treatment with nitisinone. METHODS: Fasting serum samples were collected at baseline (pre-nitisinone), 3 (2 mg nitisinone every other day), 6, 12, 24 and 36 (2 mg nitisinone daily) months...
May 13, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29750678/ce-understanding-the-nurse-s-role-in-managing-gaucher-disease
#8
Erika R Vucko
How advances in screening, diagnosis, and treatment affect patient care. ABSTRACT: Lysosomal storage disorders (LSDs) are a group of inherited metabolic conditions, the overall incidence of which is estimated to range from one in 5,000 to one in 7,000 live births. Gaucher disease, the most common LSD, is of autosomal recessive inheritance. It results from a deficiency of acid β-glucocerebrosidase and can affect the spleen, liver, bone, bone marrow, and central nervous system. Gaucher disease is clinically classified into one of three phenotypes, depending on the absence or presence of neurodegenerative disease and the rate of disease progression...
May 11, 2018: American Journal of Nursing
https://www.readbyqxmd.com/read/29747582/the-renal-manifestations-of-type-4-familial-partial-lipodystrophy-a-case-report-and-review-of-literature
#9
Ru-Xuan Chen, Lei Zhang, Wei Ye, Yu-Bing Wen, Nuo Si, Hang Li, Ming-Xi Li, Xue-Mei Li, Ke Zheng
BACKGROUND: Lipodystrophy syndromes are rare disorders of variable body fat loss associated with potentially serious metabolic complications. Familial partial lipodystrophy (FPLD) is mostly inherited as an autosomal dominant disorder. Renal involvement has only been reported in a limited number of cases of FPLD. Herein, we present a rare case of proteinuria associated with type 4 FPLD, which is characterized by a heterozygous mutation in PLIN1 and has not been reported with renal involvement until now...
May 10, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29746437/hematologic-findings-of-inherited-metabolic-disease-they-are-more-than-expected
#10
Ertan Sal, Idil Yenicesu, Ilyas Okur, Zuhre Kaya, Fatih S Ezgu, Ulker Kocak, Leyla Tumer, Turkiz Gursel, Alev Hasanoglu
Inherited metabolic diseases are pathologic conditions that generally develop as a result of impairment of the production or breakdown of protein, carbohydrate, and fatty acids. Early determination of hematological findings has a positive effect on the prognosis of metabolic diseases. Three hundred eighteen patients who were being followed-up within the previous 6 months at Department of Pediatric Nutrition and Metabolism, Gazi University, Turkey, were included in the study. The hematological findings were classified under 7 main groups: anemia of chronic disease, iron deficiency anemia, vitamin B12 deficiency anemia, hemophagocytosis, leukocytosis, and thrombocytosis...
May 9, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29740775/evaluation-of-plasma-biomarkers-of-inflammation-in-patients-with-maple-syrup-urine-disease
#11
Giselli Scaini, Tássia Tonon, Carolina F Moura de Souza, Patricia F Schuck, Gustavo C Ferreira, João Quevedo, João Seda Neto, Tatiana Amorim, Jose S Camelo, Ana Vitoria Barban Margutti, Rafael Hencke Tresbach, Fernanda Sperb-Ludwig, Raquel Boy, Paula F V de Medeiros, Ida Vanessa D Schwartz, Emilio Luiz Streck
Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder that affects branched-chain amino acid (BCAA) catabolism and is associated with acute and chronic brain dysfunction. Recent studies have shown that inflammation may be involved in the neuropathology of MSUD. However, these studies have mainly focused on single or small subsets of proteins or molecules. Here we performed a case-control study, including 12 treated-MSUD patients, in order to investigate the plasmatic biomarkers of inflammation, to help to establish a possible relationship between these biomarkers and the disease...
May 8, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29740478/a-novel-whole-gene-deletion-of-bckdhb-by-alu-mediated-non-allelic-recombination-in-a-chinese-patient-with-maple-syrup-urine-disease
#12
Gang Liu, Dingyuan Ma, Ping Hu, Wen Wang, Chunyu Luo, Yan Wang, Yun Sun, Jingjing Zhang, Tao Jiang, Zhengfeng Xu
Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by mutations in the BCKDHA, BCKDHB, DBT , and DLD genes. Among the wide range of disease-causing mutations in BCKDHB , only one large deletion has been associated with MSUD. Compound heterozygous mutations in BCKDHB were identified in a Chinese patient with typical MSUD using next-generation sequencing, quantitative PCR, and array comparative genomic hybridization. One allele presented a missense mutation (c.391G > A), while the other allele had a large deletion; both were inherited from the patient's unaffected parents...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29735120/movement-disorders-and-neurometabolic-diseases
#13
Celanie K Christensen, Laurence Walsh
Many inherited metabolic diseases or inborn errors of metabolism (IEM) cause movement disorders in children. This review focuses on chorea, dystonia, myoclonus, tremor, and parkinsonism. Broad neurometabolic categories commonly responsible for pediatric movement disorders include mitochondrial cytopathies, organic acidemias, mineral metabolism and transport disorders, neurotransmitter diseases, purine metabolism abnormalities, lipid storage conditions, and creatine metabolism dysfunction. Each movement disorder can be caused by many IEM and several of them can cause multiple movement abnormalities...
April 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29735116/inherited-and-acquired-choreas
#14
Claudio M de Gusmao, Jeff L Waugh
Chorea is a symptom of a broad array of genetic, structural, and metabolic disorders. While chorea can result from systemic illness and damage to diverse brain structures, injury to the basal ganglia, especially the putamen or globus pallidus, appears to be a uniting features of these diverse neuropathologies. The timing of onset, rate of progression, and the associated neurological or systemic symptoms can often narrow the differential diagnosis to a few disorders. Recognizing the correct etiology for childhood chorea is critical, as numerous disorders in this category are potentially curable, or are remediable, with early treatment...
April 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29731937/carnitine-palmitoyltransferase-ii-deficiency-cpt-ii-followed-by-rhabdomyolysis-and-acute-kidney-injury
#15
Nikola Gjorgjievski, Pavlina Dzekova-Vidimliski, Zvezdana Petronijevic, Gjulsen Selim, Petar Dejanov, Liljana Tozija, Aleksandar Sikole
BACKGROUND: Carnitine palmitoyltransferase II deficiency (CPT II) is an autosomal recessive disorder and the most common inherited disorder of mitochondrial long-chain fatty acid oxidation, characterised by attacks of myalgia and myoglobinuria. The most common "classic" myopathic form occurs in young adults and is characterised by recurrent episodes of rhabdomyolysis triggered by prolonged exercise, fasting or febrile illness. CASE PRESENTATION: We present a case of a 22-year-old Caucasian male admitted to our hospital with fever, dyspnea, fatigue, myalgia and dark urine (brown-coloured)...
April 15, 2018: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29725659/renal-artery-aneurysm-associated-with-leber-hereditary-optic-neuropathy
#16
Ruth Ellen Jones, Jessica Lee, Mujtaba M Ali
Leber hereditary optic neuropathy is an inherited, rare, mitochondrial metabolic disease that leads to progressive vision loss due to the accumulation of reactive oxygen species. The disorder has been associated with microangiopathy and macroangiopathy. We present a novel case of saccular left renal artery aneurysm in a 27-year-old man with known Leber hereditary optic neuropathy. The lesion was asymptomatic and grew from 1.8 to 2.0 cm during the course of 1 year. We successfully performed an endovascular left renal artery aneurysm repair...
March 2018: Journal of Vascular Surgery Cases and Innovative Techniques
https://www.readbyqxmd.com/read/29724658/human-hepatocyte-transplantation-corrects-the-inherited-metabolic-liver-disorder-arginase-deficiency-in-mice
#17
Stephanie A K Angarita, Brian Truong, Suhail Khoja, Matthew Nitzahn, Abha K Rajbhandari, Irina Zhuravka, Sergio Duarte, Michael G Lin, Alex K Lam, Stephen D Cederbaum, Gerald S Lipshutz
The transplantation, engraftment, and expansion of primary hepatocytes have the potential to be an effective therapy for metabolic disorders of the liver including those of nitrogen metabolism. To date, such methods for the treatment of urea cycle disorders in murine models has only been minimally explored. Arginase deficiency, an inherited disorder of nitrogen metabolism that presents in the first two years of life, has the potential to be treated by such methods. To explore the potential of this approach, we mated the conditional arginase deficient mouse with a mouse model deficient in fumarylacetoacetate hydrolase (FAH) and with Rag2 and IL2-Rγ mutations to give a selective advantage to transplanted (normal) human hepatocytes...
April 21, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29723117/hereditary-xanthinuria-is-not-so-rare-disorder-of-purine-metabolism
#18
I Sebesta, B Stiburkova, J Krijt
Hereditary xanthinuria (type I) is caused by an inherited deficiency of the xanthine oxidorectase (XDH/XO), and is characterized by very low concentration of uric acid in blood and urine and high concentration of urinary xanthine, leading to urolithiasis. Type II results from a combined deficiency of XDH/XO and aldehyde oxidase. Patients present with hematuria, renal colic, urolithiasis or even acute renal failure. Clinical symptoms are the same for both types. In a third type, clinically distinct, sulfite oxidase activity is missing as well as XDH/XO and aldehyde oxidase...
May 3, 2018: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/29721917/presentation-progression-and-predictors-of-ovarian-insufficiency-in-classic-galactosemia
#19
Allison B Frederick, Alison M Zinsli, Grace Carlock, Karen Conneely, Judith L Fridovich-Keil
Classic galactosemia (CG) is an inherited metabolic disorder that affects about 1 in 50,000 live births in the United States and many other countries. With the benefit of early detection by newborn screening and rapid dietary restriction of galactose, generally achieved by removing dairy from the diet, most affected infants are spared the acute and potentially lethal symptoms of disease. Despite early detection and life-long dietary intervention, however, most patients grow to experience a constellation of long-term complications that include premature ovarian insufficiency in the vast majority of girls and young women...
May 2, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29718004/update-on-diagnosis-and-management-of-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency
#20
Perrin C White
PURPOSE OF REVIEW: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a relatively common inherited disorder of cortisol biosynthesis that can be fatal if untreated. RECENT FINDINGS: The basic biochemistry and genetics of CAH have been known for decades but continue to be refined by the discoveries of an alternative 'backdoor' metabolic pathway for adrenal androgen synthesis and the secretion of 11-hydroxy and 11-keto analogs of known androgens, by the elucidation of hundreds of new mutations, and by the application of high-throughput sequencing techniques to noninvasive prenatal diagnosis...
June 2018: Current Opinion in Endocrinology, Diabetes, and Obesity
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