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JOURNAL ARTICLE
Takahiro Tsukimura, Koki Saito, Tomoko Shiga, Yasuhiro Ogawa, Hitoshi Sakuraba, Tadayasu Togawa
As a standard therapy for Fabry disease, enzyme replacement therapy (ERT) with recombinant human α-galactosidase A (α-Gal) has been successfully used, and the instructions for this drug state that "it should not be co-administrated with cationic amphiphilic drugs such as hydroxychloroquine (HCQ) and amiodarone (AMI), since these drugs have the potential to inhibit intracellular α-Gal activity". However, there would be cases in which HCQ or AMI is required for patients with Fabry disease, considering their medical efficacy and application...
June 2024: Molecular Genetics and Metabolism Reports
#2
Isabelle Redonnet-Vernhet, Patrick Mercié, Louis Lebreton, Jean-Marc Blouin, Didier Bronnimann, Samir Mesli, Claire Guibet, Emmanuel Ribeiro, Noémie Gensous, Pierre Duffau, Laurent Gouya, Emmanuel Richard
Acute hepatic porphyrias are inherited metabolic disorders of heme biosynthesis characterized by the accumulation of toxic intermediate metabolites responsible for disabling acute neurovisceral attacks. Givosiran is a newly approved siRNA-based treatment of acute hepatic porphyria targeting the first and rate-limiting δ-aminolevulinic acid synthase 1 (ALAS1) enzyme of heme biosynthetic pathway. We described a 72-year old patient who presented with severe inaugural neurological form of acute intermittent porphyria evolving for several years which made her eligible for givosiran administration...
June 2024: Molecular Genetics and Metabolism Reports
#3
JOURNAL ARTICLE
Marie K Norris, Trevor S Tippetts, Joseph L Wilkerson, Rebekah J Nicholson, J Alan Maschek, Thierry Levade, Jeffrey A Medin, Scott A Summers, William L Holland
Farber Disease is a debilitating and lethal childhood disease of ceramide accumulation caused by acid ceramidase deficiency. The potent induction of a ligand-gated neutral ceramidase activity promoted by adiponectin may provide sufficient lowering of ceramides to allow for the treatment of Farber Disease. In vitro, adiponectin or adiponectin receptor agonist treatments lowered total ceramide concentrations in human fibroblasts from a patient with Farber Disease. However, adiponectin overexpression in a Farber Disease mouse model did not improve lifespan or immune infiltration...
June 2024: Molecular Genetics and Metabolism Reports
#4
JOURNAL ARTICLE
Surita Meldau, Sally Ackermann, Gillian Riordan, George F van der Watt, Careni Spencer, Sharika Raga, Kashief Khan, Dee M Blackhurst, Francois H van der Westhuizen
Leigh syndrome is a severe progressive mitochondrial disorder mainly affecting children under the age of 5 years. It is caused by pathogenic variants in any one of more than 75 known genes in the nuclear or mitochondrial genomes. A 19-week-old male infant presented with lactic acidosis and encephalopathy following a 2-week history of irritability, neuroregression and poor weight gain. He was hypotonic with pathological reflexes, impaired vision, and nystagmus. Brain MRI showed extensive bilateral symmetrical T2 hyperintense lesions in basal ganglia, thalami, and brainstem...
June 2024: Molecular Genetics and Metabolism Reports
#5
Tianbo Zhang, Xialin Zhang, Ningning Zhang, Junrong Yan, Lina Wang, Weihong Yan, Zhuanzhuan Yu, Yonghong Zhang, Yanlong Duan, Ruijuan Zhang
This case report describes a patient initially diagnosed with Gaucher disease (GD) with type I with homozygous mutation c.1448T > C p. (Leu483Pro) at age of 2, presenting with hepatosplenomegaly and cytopenia. Imiglucerase replacement therapy was initiated. At age 17, bilateral hearing loss developed, with subsequent Cranial MRI revealing thalamic damage, leading to a reclassification as type 3 GD. By age of 20, the patient presented with a range of symptoms, including abdominal pain, diarrhea, hypoproteinemia, multiple lymphadenopathy, edema, and Gaucher cell infiltration in the lymph nodes...
June 2024: Molecular Genetics and Metabolism Reports
#6
JOURNAL ARTICLE
Yu-Chi Wang, Dau-Ming Niu, Li-Zhen Chen, Yun-Ru Chen, Chia-Feng Yang
We are documenting the case of An 11-year-old girl who has been followed up at our out-patient clinic since birth with clinical presentations including intrauterine growth restriction, recurrent periodic fever in infancy, hypotonia, global developmental delay, liver function impairment with cirrhotic changes, and clinodactyly. Congenital abnormalities were suspected but a series of examinations including brain MRI, liver biopsy and muscle biopsy yielded insignificant findings. Whole genome sequencing (WGS) was conducted and revealed three novel mutations (c2T > G, c1826T > C, c...
June 2024: Molecular Genetics and Metabolism Reports
#7
Tanguy Demaret, Jean-Sébastien Joyal, Aspasia Karalis, Fabienne Parente, Marie-Ange Delrue, Grant A Mitchell
An 11-month-old girl with severe acidosis, lethargy and vomiting, was diagnosed with holocarboxylase synthetase deficiency. She received biotin and was stable until age 8 years when vomiting, severe acidosis, hypoglycemia, and hyperammonemia developed. Management with intravenous glucose aiming to stimulate anabolism led to hyperglycemic ketoacidosis. Insulin therapy rapidly corrected biochemical parameters, and clinical status improved. We propose that secondary Krebs cycle disturbances affecting pancreatic beta cells impaired glucose-stimulated insulin secretion, resulting in insulinopenia...
June 2024: Molecular Genetics and Metabolism Reports
#8
JOURNAL ARTICLE
Alessia Mauri, Clarissa Berardo, Davide Biganzoli, Andrea Meta, Sara Benedetti, Federica Rey, Letizia Messa, Gian Vincenzo Zuccotti, Stephana Carelli, Luisella Alberti, Cristina Cereda
Each year thousands of babies are born with rare genetic disorders not identified by current NBS panels, due to programs which are not yet optimal. Next-generation sequencing technologies have the potential to overcome many NBS drawbacks and provide large amounts of molecular data, broadening the number of diseases investigated. Here, we design and set up an NGS-based approach to evaluate the feasibility of NGS from dried blood spot starting from 34 DBSs. After assessing gDNA yield and integrity, libraries were performed using three target enrichment approaches, sequenced on NS500 platform, and analyzed on commercial platform...
June 2024: Molecular Genetics and Metabolism Reports
#9
Giovanni Bisello, Christiaan G J Saris, Rossella Franchini, Marcel M Verbeek, Michel A A P Willemsen, Massimiliano Perduca, Mariarita Bertoldi
A case of an adult with borderline AADC deficiency symptoms is presented here. Genetic analysis revealed that the patient carries two AADC variants (NM_000790.3: c.1040G > A and c.679G > C) in compound heterozygosis, resulting in p.Arg347Gln and p.Glu227Gln amino acid alterations. While p.Arg347Gln is a known pathogenic variant, p.Glu227Gln is unknown. Combining clinical features to bioinformatic and molecular characterization of the AADC protein population of the patient (p.Arg347Gln/p...
June 2024: Molecular Genetics and Metabolism Reports
#10
JOURNAL ARTICLE
Chie Naito, Karis Kosar, Eriko Kishimoto, Loren Pena, Yilun Huang, Kaili Hao, Anas Bernieh, Jennifer Kasten, Chet Villa, Priya Kishnani, Bali Deeksha, Mingxia Gu, Akihiro Asai
BACKGROUND: Glycogen Storage disease type 4 (GSD4), a rare disease caused by glycogen branching enzyme 1 (GBE1) deficiency, affects multiple organ systems including the muscles, liver, heart, and central nervous system. Here we report a GSD4 patient, who presented with severe hepatosplenomegaly and cardiac ventricular hypertrophy. GBE1 sequencing identified two variants: a known pathogenic missense variant, c.1544G>A (p.Arg515His), and a missense variant of unknown significance (VUS), c...
June 2024: Molecular Genetics and Metabolism Reports
#11
JOURNAL ARTICLE
Huseyin Bilgin, Ayse Ergul Bozaci
AIM: It was aimed to identify markers that would indicate which cases presenting with rhabdomyolysis are more likely to be associated with inherited metabolic diseases. METHODS: We analyzed 327 children who applied to our Hospital Pediatric Nutrition and Metabolic Diseases Clinic with rhabdomyolysis. The diagnosis of rhabdomyolysis was made by measuring the serum creatinine kinase level in cases presenting with muscle pain, weakness and dark urine. RESULTS: Metabolic disease was detected in 29 (16/13, M/F) patients from 26 different families...
June 2024: Molecular Genetics and Metabolism Reports
#12
Dan Zhong, Xiujuan Huang, Taoshan Feng, Jieqing Zeng, Shanshan Gu, Fan Ning, Yue Yang, Jinyuan Zhu, Yajun Wang, Riling Chen, Guoda Ma
Congenital disorder of glycosylation type Ia (CDG-Ia) is an autosomal recessive genetic disease caused by a mutation in the phosphomannomutase 2 (PMM2) gene. We have identified a 13-month-old boy who has been diagnosed with CDG-Ia. He displays several characteristic symptoms, including cerebellar hypoplasia, severe developmental retardation, hypothyroidism, impaired liver function, and abnormal serum ferritin levels. Through whole-exome sequencing, we discovered novel complex heterozygous mutations in the PMM2 gene, specifically the c...
June 2024: Molecular Genetics and Metabolism Reports
#13
REVIEW
Iris Scala, Lucia Brodosi, Valentina Rovelli, Davide Noto, Alberto Burlina
OBJECTIVE: Phenylketonuria (PKU) is a metabolic disorder necessitating lifelong management to prevent severe neurological impairments. This paper synthesises clinical practices from Italian specialist centres to delineate a unified approach for administering pegvaliase, a novel enzyme replacement therapy for PKU. METHODS: Virtual meetings convened in September 2022, gathering a steering committee (SC) of experts from five Italian centres specialising in PKU. The SC reviewed, and discussed clinical practices, and formulated recommendations for pegvaliase treatment...
June 2024: Molecular Genetics and Metabolism Reports
#14
JOURNAL ARTICLE
Déborah Mathis, Jasmine Koch, Sophie Koller, Kay Sauter, Christa Flück, Anne-Christine Uldry, Patrick Forny, D Sean Froese, Alexander Laemmle
UNLABELLED: Mitochondrial malate dehydrogenase 2 (MDH2) is crucial to cellular energy generation through direct participation in the tricarboxylic acid (TCA) cycle and the malate aspartate shuttle (MAS). Inherited MDH2 deficiency is an ultra-rare metabolic disease caused by bi-allelic pathogenic variants in the MDH2 gene, resulting in early-onset encephalopathy, psychomotor delay, muscular hypotonia and frequent seizures. Currently, there is no cure for this devastating disease. We recently reported symptomatic improvement of a three-year-old girl with MDH2 deficiency following treatment with the triglyceride triheptanoin...
June 2024: Molecular Genetics and Metabolism Reports
#15
JOURNAL ARTICLE
Norberto Guelbert, Oscar Mauricio Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora Graciela Atanacio, Sabrina Bazan Natacha, Ellaine Doris Fernandes Carvalho, Maria Denise Fernandes Carvalho de Andrade, Inés María Denzler, Consuelo Durand, Erlane Ribeiro, Juan Carlos Giugni, Gabriel González, Dolores González Moron, Guillermo Guelbert, Zulma Janneth Hernández Rodriguez, Katiane Embiruçu Emilia, Marcelo Andrés Kauffman, Nury Isabel Mancilla, Laureano Marcon, Alessandra Marques Pereira, Carolina Fischinger Moura de Souza, Victor Adrián Muñoz, Ricardo Andrés Naranjo Flórez, André Luiz Pessoa, María Victoria Ruiz, Martha Luz Solano Villareal, Norma Spécola, Lina Marcela Tavera, Javiera Tello, Mónica Troncoso Schifferli, Sonia Ugrina, María Magdalena Vaccarezza, Diane Vergara, María Mercedes Villanueva
INTRODUCTION: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), is a neurodegenerative autosomal recessive disease caused by TPP1 gene variants , with a spectrum of classic and atypical phenotypes. The aim of treatment is to slow functional decline as early as possible in an attempt to improve quality of life and survival. This study describes the clinical characteristics as well as the response to treatment with cerliponase alfa. MATERIALS AND METHODS: A retrospective study was conducted in five Latin-American countries, using clinical records from patients with CLN2...
March 2024: Molecular Genetics and Metabolism Reports
#16
JOURNAL ARTICLE
Alexandra Dumitriu, Ann Lucas, Raffaella Colzani
Avalglucosidase alfa therapy for Pompe disease is diluted in dextrose 5% solution in water (D5W) for infusion, which raises questions about the potential for hyperglycemia or worsening diabetes. Using United States insurance claims data, we assessed the impact of biweekly infusions on hyperglycemia, new-onset diabetes mellitus, insulin resistance, and prediabetes in patients with Pompe disease. After starting avalglucosidase alfa treatment, 1 of 26 patients had one claim for hyperglycemia, which was attributed to acute pancreatitis...
March 2024: Molecular Genetics and Metabolism Reports
#17
Nodoka Ikeda, Yoichi Wada, Tomohito Izumi, Yuichiro Munakata, Hideki Katagiri, Shigeo Kure
BACKGROUND: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited metabolic disorder caused by biallelic pathogenic variants in genes related to the flavoprotein complex. Dysfunction of the complex leads to impaired fatty acid oxidation and ketone body production which can cause hypoketotic hypoglycemia with prolonged fasting. Patients with fatty acid oxidation disorders (FAODs) such as MADD are treated primarily with a dietary regimen consisting of high-carbohydrate foods and avoidance of prolonged fasting...
March 2024: Molecular Genetics and Metabolism Reports
#18
Renata Szalai, Agnes Till, Attila Gyenesei, Judit Bene, Kinga Hadzsiev
BACKGROUND: Prenatal whole exome sequencing (WES) approaches can provide genetic diagnosis with rapid turnaround time and high diagnostic rate when conventional tests are negative. Here we report a family with multiple pregnancy loss and with repeated occurrence of fetal microcephaly. METHODS AND RESULTS: Because of positive family history and recurrent structural abnormality during the pregnancies that may lead postnatal neurodevelopmental consequences, WES analysis was indicated...
March 2024: Molecular Genetics and Metabolism Reports
#19
Monika Williams, Iskren Menkovic, Pamela Reitnauer, Eileen Gilbert, Dwight Koeberl, Sarah P Young, Ashlee R Stiles
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase (mHS) deficiency is an autosomal recessive disorder of ketone body synthesis caused by biallelic pathogenic variants in HMGCS2 . Clinical symptoms are precipitated by prolonged fasting and/or intercurrent illness with onset before the first year of life. Clinically, patients may present with hypo-/ non-ketotic hypoglycemia, metabolic acidosis, hyperammonemia, lethargy, hepatomegaly, and encephalopathy. During periods of decompensation, elevations of 4-hydroxy-6-methyl-2-pyrone (4-HMP), several hydroxylated hexanoic and hexenoic acid species, and medium-chain dicarboxylic acids in the absence of significant ketonuria may be observed in the urine organic acid profile...
March 2024: Molecular Genetics and Metabolism Reports
#20
Domenic Filingeri, Sarah Mackey, Haley Soller, Alissa Guarneri-Tragone, James Cooper, Oscar Escobar, Jirair K Bedoyan
Glycerol kinase deficiency (GKD) is a rare X-linked condition where glycerol cannot be phosphorylated to glycerol-3-phosphate, a key component of gluconeogenesis. Clinical presentation varies widely. We present a novel variant of the responsible GK in a patient with concurrent hepatoblastoma, whose course was complicated by hypoglycemia. Hepatoblastoma has not previously been described with GKD, highlighting the need for further research into GKD and its potential role in the pathogenesis of some forms of hepatoblastoma...
March 2024: Molecular Genetics and Metabolism Reports
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