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JIMD Reports

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https://www.readbyqxmd.com/read/30414057/the-unique-spectrum-of-mutations-in-patients-with-hereditary-tyrosinemia-type-1-in-different-regions-of-the-russian-federation
#1
G V Baydakova, T A Ivanova, S V Mikhaylova, D Kh Saydaeva, L L Dzhudinova, A I Akhlakova, A I Gamzatova, I O Bychkov, E Yu Zakharova
BACKGROUND: Hereditary tyrosinemia (HT1) is an autosomal recessive disorder characterized by impaired tyrosine catabolism because of fumarylacetoacetate hydrolase deficiency. HT1 is caused by homozygous or compound heterozygous mutations in the FAH gene. The HT1 frequency worldwide is 1:100,000-1:120,000 live births. The frequency of HT1 in the Russian Federation is unknown. AIM: To estimate the spectrum of mutations in HT1 in several ethnic groups of the Russian Federation...
November 11, 2018: JIMD Reports
https://www.readbyqxmd.com/read/30406505/enzyme-replacement-therapy-in-pregnant-women-with-fabry-disease-a-case-series
#2
Pehuén Fernández, Shunko Oscar Fernández, Jacqueline Griselda Mariela Gonzalez, Tabaré Fernández, Cinthia Claudia Fernández, Segundo Pastor Fernández
Fabry disease is a rare inherited lysosomal storage disorder caused by the deficiency of the enzyme alpha-galactosidase A. There is uncertainty regarding the safety of enzyme replacement therapy during pregnancy. We describe the course and outcome of seven pregnancies in six patients with Fabry disease who continued or reinitiated enzyme replacement therapy during pregnancy. No adverse events, in both mothers and children, were observed.
November 8, 2018: JIMD Reports
https://www.readbyqxmd.com/read/30406504/survival-of-a-male-infant-with-a-familial-xp11-4-deletion-causing-ornithine-transcarbamylase-deficiency
#3
Molly McPheron, Melissa Lah
Ornithine transcarbamylase (OTC) deficiency is well known to cause severe neonatal hyperammonemia in males with absent enzyme activity. In families with large deletions of the X chromosome involving OTC and other contiguous genes, male infants appear to have an even more severe course. Notably, there are no published reports of these males surviving to liver transplant, even in cases where the diagnosis was known or suspected at birth. We describe two male newborns and their mother who all have a 1.5-Mb deletion of Xp11...
November 8, 2018: JIMD Reports
https://www.readbyqxmd.com/read/30349989/severe-neonatal-manifestations-of-infantile-liver-failure-syndrome-type-1-caused-by-cytosolic-leucine-trna-synthetase-deficiency
#4
Christina Peroutka, Jacqueline Salas, Jacquelyn Britton, Juliet Bishop, Lisa Kratz, Maureen M Gilmore, Jill A Fahrner, W Christopher Golden, Tao Wang
BACKGROUND: Deleterious mutations in cytosolic leucine-tRNA synthetase (LARS) cause infantile liver failure syndrome, type 1 (ILFS1), a recently recognized, rare autosomal recessive disorder (OMIM151350). Only six families with ILFS1 have been reported in the literature. Patients with ILFS1 are typically diagnosed between 5 and 24 months of age with failure to thrive, developmental delays, encephalopathy, microcytic anemia, and chronic liver dysfunction with recurrent exacerbations following childhood illnesses...
October 23, 2018: JIMD Reports
https://www.readbyqxmd.com/read/30349988/dihydropyrimidine-dehydrogenase-deficiency-homozygosity-for-an-extremely-rare-variant-in-dpyd-due-to-uniparental-isodisomy-of-chromosome-1
#5
André B P van Kuilenburg, Judith Meijer, Rutger Meinsma, Belén Pérez-Dueñas, Marielle Alders, Zahurul A Bhuiyan, Rafael Artuch, Raoul C M Hennekam
Dihydropyrimidine dehydrogenase (DPD) deficiency is a rare autosomal recessive disorder of the pyrimidine degradation pathway and can lead to intellectual disability, motor retardation, and seizures. Genetic variations in DPYD have also emerged as predictive risk factors for severe toxicity in cancer patients treated with fluoropyrimidines. We recently observed a child born to non-consanguineous parents, who demonstrated seizures, cognitive impairment, language delay, and MRI abnormalities and was found to have marked thymine-uraciluria...
October 23, 2018: JIMD Reports
https://www.readbyqxmd.com/read/30349987/acute-and-chronic-management-in-an-atypical-case-of-ethylmalonic-encephalopathy
#6
Thomas M Kitzler, Indra R Gupta, Bradley Osterman, Chantal Poulin, Yannis Trakadis, Paula J Waters, Daniela C Buhas
Ethylmalonic encephalopathy (EE) is caused by mutations in the ETHE1 gene. ETHE1 is vital for the catabolism of hydrogen sulfide (H2 S). Patients with pathogenic mutations in ETHE1 have markedly increased thiosulfate, which is a reliable index of H2 S levels. Accumulation of H2 S is thought to cause the characteristic metabolic derangement found in EE. Recently introduced treatment strategies in EE, such as combined use of metronidazole (MNZ) and N-acetylcysteine (NAC), are aimed at lowering chronic H2 S load...
October 23, 2018: JIMD Reports
https://www.readbyqxmd.com/read/30311141/case-of-neonatal-fatality-from-neuromuscular-variant-of-glycogen-storage-disease-type-iv
#7
Tavleen Sandhu, Michelle Polan, Zhongxin Yu, Rufei Lu, Abhishek Makkar
Glycogen storage disease type IV (GSD-IV), or Andersen disease, is a rare autosomal recessive disorder that results from the deficiency of glycogen branching enzyme (GBE). This in turn results in accumulation of abnormal glycogen molecules that have longer outer chains and fewer branch points. GSD-IV manifests in a wide spectrum, with variable phenotypes depending on the degree and type of tissues in which this abnormal glycogen accumulates. Typically, GSD-IV presents with rapidly progressive liver cirrhosis and death in early childhood...
October 12, 2018: JIMD Reports
https://www.readbyqxmd.com/read/30311140/auxiliary-partial-orthotopic-liver-transplantation-for-monogenic-metabolic-liver-diseases-single-centre-experience
#8
Naresh P Shanmugam, Joseph J Valamparampil, Mettu Srinivas Reddy, Khoula Julenda Al Said, Khalid Al-Thihli, Nadia Al-Hashmi, Emtithal Al-Jishi, Hasan Mohamed Ali Isa, Anil B Jalan, Mohamed Rela
PURPOSE: Auxiliary partial orthotopic liver transplantation (APOLT) in metabolic liver disease (MLD) has the advantage of correcting the metabolic defect, preserving the native liver for gene therapy in the future with the possibility of withdrawal of immunosuppression. METHODS: Retrospective analysis of safety and efficacy of APOLT in correcting the underlying defect and its impact on neurological status of children with MLD. RESULTS: A total of 13 APOLT procedures were performed for MLD during the study period...
October 12, 2018: JIMD Reports
https://www.readbyqxmd.com/read/30311139/the-effect-of-continuous-intravenous-glucagon-on-glucose-requirements-in-infants-with-congenital-hyperinsulinism
#9
Colin P Hawkes, Juan J Lado, Stephanie Givler, Diva D De Leon
BACKGROUND/AIMS: Continuous intravenous glucagon is frequently used in the management of severe congenital hyperinsulinism (HI), but its efficacy in these patients has not been systematically evaluated. The aim of this study was to describe the use of continuous intravenous glucagon and to evaluate its effect on the glucose infusion rate (GIR) requirement in infants with HI. METHODS: Retrospective chart review of children with HI who received continuous intravenous glucagon for prevention of hypoglycemia at the Children's Hospital of Philadelphia between 2003 and 2013...
October 12, 2018: JIMD Reports
https://www.readbyqxmd.com/read/30311138/a-novel-truncating-flad1-variant-causing-multiple-acyl-coa-dehydrogenase-deficiency-madd-in-an-8-year-old-boy
#10
B Ryder, M Tolomeo, Z Nochi, M Colella, M Barile, R K Olsen, M Inbar-Feigenberg
Multiple acyl-CoA dehydrogenase deficiency (MADD) or glutaric aciduria type II (GAII) is a clinically heterogeneous disorder affecting fatty acid and amino acid metabolism. Presentations range from a severe neonatal form with hypoglycemia, metabolic acidosis, and hepatomegaly with or without congenital anomalies to later-onset lipid storage myopathy. Genetic testing for MADD traditionally comprises analysis of ETFA, ETFB, and ETFDH. Patients may respond to pharmacological doses of riboflavin, particularly those with late-onset MADD due to variants in ETFDH...
October 12, 2018: JIMD Reports
https://www.readbyqxmd.com/read/30242630/feeding-difficulties-and-orofacial-myofunctional-disorder-in-patients-with-hepatic-glycogen-storage-diseases
#11
Chenia Caldeira Martinez, Tássia Tonon, Tatiéle Nalin, Lilia Farret Refosco, Carolina Fischinger Moura de Souza, Ida Vanessa Doederlein Schwartz
Hepatic glycogen storage diseases (GSDs) are inborn errors of metabolism whose dietary treatment involves uncooked cornstarch administration and restriction of simple carbohydrate intake. The prevalence of feeding difficulties (FDs) and orofacial myofunctional disorders (OMDs) in these patients is unknown. OBJECTIVE: To ascertain the prevalence of FDs and OMDs in GSD. METHODS: This was a cross-sectional, prospective study of 36 patients (19 males; median age, 12...
September 22, 2018: JIMD Reports
https://www.readbyqxmd.com/read/30209782/oral-ganglioside-supplement-improves-growth-and-development-in-patients-with-ganglioside-gm3-synthase-deficiency
#12
Heng Wang, Valerie Sency, Paul McJarrow, Alicia Bright, Qianyang Huang, Karen Cechner, Julia Szekely, JoAnn Brace, Andi Wang, Danting Liu, Angela Rowan, Max Wiznitzer, Aimin Zhou, Baozhong Xin
Ganglioside GM3 synthase is a key enzyme involved in the biosynthesis of gangliosides. GM3 synthase deficiency (GM3D) causes an absence of GM3 and all downstream biosynthetic derivatives. The affected individuals manifest with severe irritability, intractable seizures, and profound intellectual disability. The current study is to assess the effects of an oral ganglioside supplement to patients with GM3D, particularly on their growth and development during early childhood. A total of 13 young children, 11 of them under 40 months old, received oral ganglioside supplement through a dairy product enriched in gangliosides, for an average of 34 months...
September 13, 2018: JIMD Reports
https://www.readbyqxmd.com/read/30209781/i-cell-disease-mucolipidosis-ii-a-case-series-from-a-tertiary-paediatric-centre-reviewing-the-airway-and-respiratory-consequences-of-the-disease
#13
Rachel Edmiston, Stuart Wilkinson, Simon Jones, Karen Tylee, Alexander Broomfield, Iain A Bruce
BACKGROUND: Inclusion cell disease (I-cell) is a rare autosomal recessive metabolic disease involving multiple organ systems, associated with a severely restricted life expectancy. No curative therapy is currently available, with management aimed at symptom palliation. METHODS: We present a retrospective, single-centre, case series of children referred to a tertiary paediatric metabolic service. The clinical presentation, demographics, genetics and natural history of the condition are investigated...
September 13, 2018: JIMD Reports
https://www.readbyqxmd.com/read/30187371/screening-for-niemann-pick-type-c-disease-in-a-memory-clinic-cohort
#14
Andreas Traschütz, Michael Thomas Heneka
Niemann-Pick type C disease (NPC) is a neurovisceral lysosomal storage disorder with a heterogeneous phenotype including ataxia, cognitive impairment, impairment of vertical saccades, and psychiatric symptoms, among many others. Based on clinical, genetic, and biomarker findings, recent guidelines put forward a screening for atypical and oligosymptomatic forms of NPC in clinical niches with an increased risk. Here, we report methods and results of a negative screening study in the niche of a memory clinic. We retrospectively and prospectively identified 83 patients with unclassified cognitive impairment (15 dementia, 46 mild cognitive impairment, and 22 progressive subjective cognitive decline) before 60 years of age (82 patients between 41 and 60 years)...
September 6, 2018: JIMD Reports
https://www.readbyqxmd.com/read/30187370/reversible-cerebral-white-matter-abnormalities-in-homocystinuria
#15
Naila Ismayilova, Andrew D MacKinnon, Helen Mundy, Penny Fallon
Striking MRI brain changes resembling leukoencephalopathy are rarely seen in classical homocystinuria. Our case suggests that reversible white matter changes (WMC) are linked to elevated plasma methionine levels arising during treatment.A 6-year-old boy with learning difficulties and a normal MRI brain scan was diagnosed with homocystinuria (initial total homocysteine 344 μmol/L and methionine 64 μmol/L). At the age of 6.5 years, he developed superior sagittal sinus (SSS) thrombosis. Antithrombotic and homocysteine-lowering treatments were started...
September 6, 2018: JIMD Reports
https://www.readbyqxmd.com/read/30187369/hyperornithinemia-hyperammonemia-and-homocitrullinuria-syndrome-causing-severe-neonatal-hyperammonemia
#16
Katherine Taylor Wild, Rebecca D Ganetzky, Marc Yudkoff, Lynne Ierardi-Curto
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome (OMIM 238970) is an autosomal recessive disorder that is caused by a deficiency of mitochondrial ornithine transporter 1, resulting in dysfunction of the urea cycle. HHH is the rarest of the urea cycle disorders, reported in fewer than 100 patients. It is characterized by extreme phenotypic variability, including diverse ages of onset and severity of phenotype. We report the first confirmed instance of HHH syndrome in a premature infant (31 2/7 weeks) with severe hyperammonemia (1,300 μmol/L)...
September 6, 2018: JIMD Reports
https://www.readbyqxmd.com/read/30117111/dpagt1-deficiency-with-encephalopathy-dpagt1-cdg-clinical-and-genetic-description-of-11-new-patients
#17
Bobby G Ng, Hunter R Underhill, Lars Palm, Per Bengtson, Jean-Michel Rozet, Sylvie Gerber, Arnold Munnich, Xavier Zanlonghi, Cathy A Stevens, Martin Kircher, Deborah A Nickerson, Kati J Buckingham, Kevin D Josephson, Jay Shendure, Michael J Bamshad, Hudson H Freeze, Erik A Eklund
Pathogenic mutations in DPAGT1 cause a rare type of a congenital disorder of glycosylation termed DPAGT1-CDG or, alternatively, a milder version with only myasthenia known as DPAGT1-CMS. Fourteen disease-causing mutations in 28 patients from 10 families have previously been reported to cause the systemic form, DPAGT1-CDG. We here report on another 11 patients from 8 families and add 10 new mutations. Most patients have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death...
August 17, 2018: JIMD Reports
https://www.readbyqxmd.com/read/30117110/enzyme-replacement-therapy-during-pregnancy-in-fabry-patients-review-of-published-cases-of-live-births-and-a-new-case-of-a-severely-affected-female-with-fabry-disease-and-pre-eclampsia-complicating-pregnancy
#18
Christoffer V Madsen, Erik Ilsø Christensen, Rikke Nielsen, Helle Mogensen, Åse K Rasmussen, Ulla Feldt-Rasmussen
Fabry disease (FD) is an X-linked, lysosomal storage disease. Mutations in the gene coding for alpha-galactosidase A lead to globotriaosylceramide (Gb-3) accumulation in lysosomes and in placenta and umbilical cord. Impact of FD and treatment with enzyme replacement (ERT) on foetal development is undisclosed.A 38-year-old primigravida with FD (G85N) is reported. She has 50% reduced alpha-galactosidase A activity and elevated plasma and urine-Gb-3. She was severely affected with ischaemic stroke at age 23, hypertension, albuminuria and moderately reduced renal function...
August 17, 2018: JIMD Reports
https://www.readbyqxmd.com/read/30097992/cobalamin-d-deficiency-identified-through-newborn-screening
#19
Aya Abu-El-Haija, Bryce A Mendelsohn, Jacque L Duncan, Anthony T Moore, Orit A Glenn, Kara Weisiger, Renata C Gallagher
Cobalamin D deficiency (cblD) is one of the least common cobalamin metabolism disorders. It may result in isolated homocystinuria, isolated methylmalonic aciduria, or combined methylmalonic aciduria and homocystinuria (cblD-combined). Only seven cases of the combined cblD form have been reported to date. Due to the rarity of this disorder, the presentation and symptoms are not well described. We present an eighth case of the cblD-combined subtype, who had a positive newborn screen (NBS) on day of life 3. She was symptomatic and developed lethargy and poor oral intake at 8 days of life...
August 11, 2018: JIMD Reports
https://www.readbyqxmd.com/read/30097991/lathosterolosis-a-relatively-mild-case-with-cataracts-and-learning-difficulties
#20
R Anderson, S Rust, J Ashworth, J Clayton-Smith, R L Taylor, P T Clayton, A A M Morris
Lathosterolosis is a rare defect of cholesterol synthesis. Only four previous cases have been reported, two of whom were siblings. We report a fifth patient, with a relatively mild phenotype. He presented at 5 years of age with bilateral posterior cataracts, which were managed with lensectomies and intraocular lens implants. He also had learning difficulties, with a full-scale IQ of 64 at 11 years of age. His head circumference is between the 0.4th and 2nd centiles, and he has mild hypotonia and subtle dysmorphism (a high-arched palate, anteverted nostrils, long philtrum and clinodactyly of toes)...
August 11, 2018: JIMD Reports
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