journal
https://read.qxmd.com/read/38444580/specific-gag-ratios-in-the-diagnosis-of-mucopolysaccharidoses
#1
JOURNAL ARTICLE
Déborah Mathis, Jean-Christophe Prost, Gabriela Maeder, Liya Arackal, Haoyue Zhang, Sandra Kurth, Katrin Freiburghaus, Jean-Marc Nuoffer
Mucopolysaccharidoses (MPS) screening is tedious and still performed by analysis of total glycosaminoglycans (GAG) using 1,9-dimethylmethylene blue (DMB) photometric assay, although false positive and negative tests have been reported. Analysis of differentiated GAGs have been pursued classically by gel electrophoresis or more recently by quantitative LC-MS assays. Secondary elevations of GAGs have been reported in urinary tract infections (UTI). In this manuscript, we describe the diagnostic accuracy of urinary GAG measurements by LC-MS for MPS typing in 68 untreated MPS and mucolipidosis (ML) patients, 183 controls and 153 UTI samples...
March 2024: JIMD Reports
https://read.qxmd.com/read/38444579/correction-to-early-treatment-of-neonatal-diabetes-with-oral-glibenclamide-in-an-extremely-preterm-infant
#2
(no author information available yet)
[This corrects the article DOI: 10.1002/jmd2.12358.].
March 2024: JIMD Reports
https://read.qxmd.com/read/38444578/5-10-methenyltetrahydrofolate-synthetase-deficiency-an-extreme-rare-defect-of-folate-metabolism-in-two-dutch-siblings
#3
Lelde Liepina, Desiree E C Smith, Hidde Huidekoper, Shimriet Zeidler, Mirjam Wamelink, Marie-Claire de Wit, Martina Wilke, George Ruijter, Jörgen Bierau, Henk J Blom
Two siblings, presenting with a neurometabolic phenotype, were identified with 5, 10-methenyltetrahydrofolate synthetase (MTHFS) deficiency. Whole genome sequencing in both patients demonstrated an homozygous MTHFS variant NM_006441.3( MTHFS ):c.434G > A, p.Arg145Gin, which has been described before. At baseline, both patients showed moderate hyperhomocysteinemia, decreased 5-methyltetrahydrofolate (5MTHF), and increased 5-formyltetrahydrofolate (5-FTHF) in whole blood. In CSF, 5MTHF levels were in the low-normal range and 5-FTHF was strongly increased...
March 2024: JIMD Reports
https://read.qxmd.com/read/38444577/clinical-biochemical-and-molecular-characterization-of-a-new-case-with-fdx2-related-mitochondrial-disorder-potential-biomarkers-and-treatment-options
#4
JOURNAL ARTICLE
Parith Wongkittichote, Cassandra Pantano, Miao He, Xinying Hong, Matthew M Demczko
UNLABELLED: Ferredoxin-2 (FDX2) is an electron transport protein required for iron-sulfur clusters biosynthesis. Pathogenic variants in FDX2 have been associated with autosomal recessive FDX2 -related disorder characterized by mitochondrial myopathy with or without optic atrophy and leukoencephalopathy. We described a new case harboring compound heterozygous variants in FDX2 who presented with recurrent rhabdomyolysis with severe episodes affecting respiratory muscle. Biochemical analysis of the patients revealed hyperexcretion of 2-hydroxyadipic acid, along with previously reported biochemical abnormalities...
March 2024: JIMD Reports
https://read.qxmd.com/read/38444576/evaluation-in-a-highly-specialised-enzyme-laboratory-of-a-digital-microfluidics-platform-for-rapid-assessment-of-lysosomal-enzyme-activity-in-dried-blood-spots
#5
JOURNAL ARTICLE
Rohit Hirachan, Alistair Horman, Derek Burke, Simon Heales
Lysosomal storage disorders (LSDs) are predominantly enzyme deficiencies leading to substrate accumulation, causing progressive damage to multiple organs. To date, a crucial part of diagnosing LSDs is measuring enzymatic activity in leucocytes, plasma, or dried blood spots (DBS). Here, we present results from a proof-of-principle study, evaluating an innovative digital microfluidics (DMF) platform, referred to as SEEKER®, that can measure the activity of the following four lysosomal enzymes from DBS: α-L-iduronidase (IDUA) for mucopolysaccharidosis I (MPS I), acid α-glucosidase (GAA) for Pompe disease, β-glucosidase (GBA) for Gaucher disease, and α-galactosidase A (GLA) for Fabry disease...
March 2024: JIMD Reports
https://read.qxmd.com/read/38444575/non-hodgkin-lymphoma-in-a-kidney-transplanted-patient-with-methylmalonic-acidemia-metabolic-susceptibility-and-the-role-of-immunosuppression
#6
Alberto B Burlina, Alessandro P Burlina, Renzo Mignani, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Matthias R Baumgartner, Vincenza Gragnaniello
Methylmalonic acidemia cblB type (MMA cblB) is an autosomal recessive inborn error of amino acid metabolism that results in impaired synthesis of adenosylcobalamin, a cofactor of methylmalonyl-CoA mutase. It presents with episodes of coma, vomiting, hypotonia, metabolic acidosis, and hyperammonemia. End-stage kidney disease is a long-term complication. Treatments include vitamin B12 supplementation, L-carnitine, and a low-protein diet. Liver, kidney, or combined liver-kidney transplantations are promising options, but they are not without complications...
March 2024: JIMD Reports
https://read.qxmd.com/read/38444574/patient-and-family-experiences-of-lysosomal-storage-diseases-in-canada-a-qualitative-interview-study
#7
JOURNAL ARTICLE
Nahya Awada, Martin Holcik
Canadian patients and families affected by rare genetic lysosomal storage diseases (LSDs) suffer from numerous challenges related to disease management, including issues navigating healthcare and social support services, access to orphan drugs, and intensive treatment regimens. These challenges significantly impact people's quality of life, yet they remain obscure and have not been the subject of comprehensive analysis. Thus, we conducted qualitative interviews with Canadian patients and caregivers living with LSDs to advance current understanding of their experiences with rare-disease (RD) management and health systems navigation to support patient-focused RD policies and programs and improve the health outcomes of the 2...
March 2024: JIMD Reports
https://read.qxmd.com/read/38444573/lysosomal-storage-disorders-identified-in-adult-population-from-india-experience-of-a-tertiary-genetic-centre-and-review-of-literature
#8
JOURNAL ARTICLE
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth
Lysosomal storage disorders (LSDs) in adults have milder phenotype and variable age at presentation. Several studies have described the phenotype, genotype and treatment outcomes for adult-onset LSDs like Gaucher, Fabry, Pompe disease and others. We describe the first systematic study on the occurrence of LSDs in an adult population from India. It describes, the key clinical signs seen in these patients and those from literature review that can aid in early detection. Of 2102 biochemically diagnosed LSDs cases, 32 adult patients were identified with LSDs...
March 2024: JIMD Reports
https://read.qxmd.com/read/38444572/neuropsychological-stability-in-classical-galactosemia-a-pilot-study-in-10-adult-patients
#9
JOURNAL ARTICLE
Merel E Hermans, Gert J Geurtsen, Carla E M Hollak, Annet M Bosch
Classical galactosemia (CG) is an autosomal recessive disorder of galactose metabolism. Despite early initiation of a galactose-restricted diet, patients develop long-term complications including cognitive impairment. There is an ongoing debate whether the cognitive impairment in CG is stable throughout life or progresses with age. Earlier cross-sectional and longitudinal studies regarding intelligence suggest stability, but longitudinal neuropsychological studies focusing on specific cognitive functions are limited...
March 2024: JIMD Reports
https://read.qxmd.com/read/38186851/biochemical-characterization-on-muscle-tissue-of-a-novel-biallelic-aco2-mutation-in-an-infant-with-progressive-encephalopathy
#10
Federica Silvia Ricci, Serena Stanga, Mariarosa Mezzanotte, Cristina Marinaccio, Rossella D'Alessandro, Alessandra Somà, Stefano Sottemano, Alessandra Conio, Giovanni Morana, Marco Spada, Marina Boido, Tiziana E Mongini
The ACO2 gene encodes the mitochondrial protein aconitate hydratase, which is responsible for catalyzing the interconversion of citrate into isocitrate in the tricarboxylic acid (TCA) cycle. Mitochondrial aconitase is expressed ubiquitously, and deficiencies in TCA-cycle enzymes have been reported to cause various neurodegenerative diseases due to disruption of cellular energy metabolism and development of oxidative stress. We investigated a severe early infantile-onset neurometabolic syndrome due to a homozygous novel variant in exon 13 of the ACO2 gene...
January 2024: JIMD Reports
https://read.qxmd.com/read/38186850/pyruvate-carboxylase-deficiency-type-c-variable-presentation-and-beneficial-effect-of-triheptanoin
#11
I Bernhardt, L Van Dorp, M Dixon, M McSweeney, C Gan, J Baruteau, A Chakrapani
Pyruvate carboxylase is a mitochondrial enzyme essential for the tricarboxylic acid cycle (TCA), gluconeogenesis and fatty-acid synthesis. Pyruvate carboxylase deficiency (PCD) mostly presents with life-limiting encephalopathy (types A/B). A milder type C presentation is rare, with a comparatively favourable prognosis. Therapies remain essentially supportive. Triheptanoin is an odd-chain triglyceride, with the potential to replenish TCA intermediates (anaplerosis), and its metabolites cross the blood-brain-barrier...
January 2024: JIMD Reports
https://read.qxmd.com/read/38186849/psychosocial-issues-and-coping-strategies-in-families-affected-by-long-chain-fatty-acid-oxidation-disorders
#12
JOURNAL ARTICLE
Maren Thiel, Sven F Garbade, Stefanie Rosenbaum-Fabian, Ute Spiekerkoetter, Sarah C Grünert
Long-chain fatty acid oxidation disorders (lcFAODs) are associated with a high disease burden due to both the risk of metabolic decompensation as well as chronic, partly irreversible complications in some. Little research has been performed on the impact of these disorders on the daily life of parents and caregivers. We performed a web-based questionnaire study among parents/caregivers of patients affected with lcFAODs. The questionnaire focused on challenges at different ages of the child, on disease management issues, schooling, family and social life as well as the parental job situation, and their overall attitude toward the disease and the future life of their child...
January 2024: JIMD Reports
https://read.qxmd.com/read/38186848/diagnostic-delay-in-late-onset-pompe-disease-among-chinese-patients-a-retrospective-study
#13
JOURNAL ARTICLE
Dongyue Yue, Kexin Jiao, Xingyu Xia, Jialong Zhang, Bochen Zhu, Lingchun Liu, Kunzhao Du, Mingshi Gao, Nachuan Cheng, Ningning Wang, Sushan Luo, Jianying Xi, Jiahong Lu, Chongbo Zhao, Wenhua Zhu
Surveys and retrospective studies have revealed considerable delays in diagnosing late-onset Pompe disease (LOPD) in China, where the contributing factors remain poorly represented. Our study analyzed the diagnostic journey of 34 LOPD patients seen at our neuromuscular clinic from 2005 to 2022. We defined diagnostic delay as the time from the onset of the first relevant symptoms and laboratory findings suggestive of LOPD to the eventual diagnosis, and we constructed a correlation matrix to assess relationships among these variables...
January 2024: JIMD Reports
https://read.qxmd.com/read/38186847/characterization-of-orthopedic-manifestations-in-patients-with-mucopolysaccharidosis-ii-using-data-from-15%C3%A2-years-of-the-hunter-outcome-survey
#14
JOURNAL ARTICLE
Bianca Link, Jaco Botha, Roberto Giugliani
Mucopolysaccharidosis II (MPS II) is a rare, life-limiting lysosomal storage disease caused by reduced iduronate-2-sulfatase activity. Patients experience broad ranging signs and symptoms, including bone and joint manifestations. This study reported on orthopedic involvement and management in patients with MPS II using 15 years of data from the Hunter Outcome Survey (HOS). Of the 245 patients in the study population, 90.2% had skeletal deformity (median onset, 2.8 years), 76.7% had upper body stiffness (onset, 4...
January 2024: JIMD Reports
https://read.qxmd.com/read/37927490/lysinuric-protein-intolerance-exhibiting-renal-tubular-acidosis-fanconi-syndrome-in-a-japanese-woman
#15
Hiroaki Hanafusa, Katsuya Nakamura, Yuji Kamijo, Masashi Kitahara, Takashi Ehara, Tsuneaki Yoshinaga, Kaoru Aoki, Nagaaki Katoh, Tomomi Yamaguchi, Tomoki Kosho, Yoshiki Sekijima
Lysinuric protein intolerance (LPI), caused by pathogenic variants of SLC7A7, is characterized by protein aversion, failure to thrive, hyperammonemia, and hepatomegaly. Recent studies have reported that LPI can cause multiple organ dysfunctions, including kidney disease, autoimmune deficiency, pulmonary alveolar proteinosis, and osteoporosis. We report the case of a 47-year-old Japanese woman who was initially diagnosed with renal tubular acidosis (RTA), Fanconi syndrome, and rickets. At the age of 3 years, she demonstrated a failure to thrive...
November 2023: JIMD Reports
https://read.qxmd.com/read/37927489/pigo-cdg-a-case-study-with-a-new-genotype-expansion-of-the-phenotype-literature-review-and-nosological-considerations
#16
Rodrigo Tzovenos Starosta, Nino Kerashvili, Cassandra Pruitt, Matthew J Schultz, Suzanne W Boyer, Eva Morava, Maria Laura Duque Lasio, Dorothy K Grange
The phosphatidylinositol glycan anchor biosynthesis class O protein (PIGO) enzyme is an important step in the biosynthesis of glycosylphosphatidylinositol (GPI), which is essential for the membrane anchoring of several proteins. Bi-allelic pathogenic variants in PIGO lead to a congenital disorder of glycosylation (CDG) characterized by global developmental delay, an increase in serum alkaline phosphatase levels, congenital anomalies including anorectal, genitourinary, and limb malformations in most patients; this phenotype has been alternately called "Mabry syndrome" or "hyperphosphatasia with impaired intellectual development syndrome 2...
November 2023: JIMD Reports
https://read.qxmd.com/read/37927488/a-case-of-hyperlysinemia-identified-by-urine-newborn-screening
#17
Mehdi Yeganeh, Christiane Auray-Blais, Bruno Maranda, Amanda Sabovic, Robert J DeVita, Michael B Lazarus, Sander M Houten
Hyperlysinemia is a rare autosomal recessive deficiency of 2-aminoadipic semialdehyde synthase (AASS) affecting the initial step in lysine degradation. It is thought to be a benign biochemical abnormality, but reports on cases remain scarce. The description of additional cases, in particular, those identified without ascertainment bias, may help counseling of new cases in the future. It may also help to establish the risks associated with pharmacological inhibition of AASS, a potential therapeutic strategy that is under investigation for other inborn errors of lysine degradation...
November 2023: JIMD Reports
https://read.qxmd.com/read/37927487/investigation-of-the-relationship-between-phenylalanine-in-venous-plasma-and-capillary-blood-using-volumetric-blood-collection-devices
#18
JOURNAL ARTICLE
Rachel S Carling, Zoe Barclay, Nathan Cantley, Erin C Emmett, Sarah L Hogg, Yael Finezilber, Danja Schulenburg-Brand, Elaine Murphy, Stuart J Moat
Measurement of plasma and dried blood spot (DBS) phenylalanine (Phe) is key to monitoring patients with phenylketonuria (PKU). The relationship between plasma and capillary DBS Phe concentrations has been investigated previously, however, differences in methodology, calibration approach and assumptions about the volume of blood in a DBS sub-punch has complicated this. Volumetric blood collection devices (VBCDs) provide an opportunity to re-evaluate this relationship. Paired venous and capillary samples were collected from patients with PKU ( n  = 51)...
November 2023: JIMD Reports
https://read.qxmd.com/read/37927486/arginase-deficiency-masked-by-cerebral-palsy-and-coagulopathy-three-varied-presentations-of-latin-american-origin
#19
Shelby L Mills, Paige Roberts, Myla Ashfaq, Kathryn Leal, Hope Northrup, Deborah L Brown, David Rodriguez-Buritica, Laura S Farach
Arginase deficiency (ARG1-D) is an autosomal recessive inborn error of metabolism that is often misdiagnosed. Classic presentation of ARG1-D includes progressive symptoms of spasticity, delayed development, cognitive impairment, protein avoidance, and seizures. Patients who present atypically may evade diagnosis and require a thoughtful diagnostic workup. Here, we discuss three females of Latin American origin with differing clinical presentations, but who all have the same intronic pathogenic variant in ARG1 ...
November 2023: JIMD Reports
https://read.qxmd.com/read/37927485/patients-with-primary-carnitine-deficiency-treated-with-l-carnitine-are-alive-and-doing-well-a-10-year-follow-up-in-the-faroe-islands
#20
JOURNAL ARTICLE
Rannvá K Abrahamsen, Allan M Lund, Jan Rasmussen
Primary carnitine deficiency (PCD) can be lethal. Carnitine is essential for the transfer of long-chain fatty acids across the inner mitochondrial membrane for β-oxidation. The reported prevalence of PCD in the Faroe Islands of 1:300 is the highest in the world. The Faroese PCD patient cohort has been closely monitored and we now report results from a 10-year follow-up study of 139 PCD patients. Four patients have died of natural causes since diagnosis. There were no signs of cardiac complications related to PCD...
November 2023: JIMD Reports
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