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https://www.readbyqxmd.com/read/28275973/normal-neurological-development-during-infancy-despite-massive-hyperammonemia-in-early-treated-nags-deficiency
#1
Hallvard Reigstad, Berit Woldseth, Johannes Häberle
A girl born at term was admitted to the neonatal intensive care unit because of mild respiratory distress after a complicated delivery. She recovered, but was readmitted at 58 h of life with mild respiratory distress and increased muscle tone. Neonatal abstinence syndrome because of maternal use of lithium, clomipramine, and quetiapine during pregnancy was suspected, but at 115 h of life she became unresponsive, and an immediate work-up for coma was initiated. An ammonia of 2,235 μmol/l was found, and treatment with sodium benzoate, sodium phenylacetate, arginine, glucose, and N-carbamylglutamate (NCG, Carbaglu(®)) was started...
March 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28261508/urea-cycle-defects-early-onset-disease-associated-with-a208t-mutation-in-otc-gene-expanding-the-clinical-phenotype
#2
Ana Isabel Sánchez, Alejandra Rincón, Mary García, Fernando Suárez-Obando
Ornithine transcarbamylase deficiency (OMIM: 311250) is the most common disorder of urea cycle disorders, accounting for nearly 50% of all cases. We report a case of a two-month- old male patient, who attends our medical genetics consultation because of low citrulline levels and elevated glutamine to citrulline ratio detected by expanded newborn screening with tandem mass spectrometry. He is an asymptomatic male with a normal physical examination and appropriate neurodevelopmental milestones. The patient has a family history of one older brother who died at 18 months old from severe and sudden hyperammonemia and a maternal aunt who suddenly died at two years old...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28240807/genetic-hematological-and-immunological-disorders-transmissible-with-liver-transplantation
#3
REVIEW
Amy Tan, Sander S Florman, Thomas D Schiano
It is well recognized that solid organ transplantation can transmit bacterial infection, chronic viral hepatitis as well as certain cancers. As indications for liver transplantation have expanded, it has been used to treat and even cure certain genetic cholestatic disorders, urea cycle defects and coagulation abnormalities; many of these conditions are potentially transmissible with liver transplantation as well. It is important for clinicians and transplant patients to be aware of these potentially transmissible conditions as unexplained post-liver transplant complications can sometimes be related to donor transmission of disease and thus should prompt a thorough exploration of the donor allograft history...
February 27, 2017: Liver Transplantation
https://www.readbyqxmd.com/read/28111830/mutations-in-the-human-argininosuccinate-synthetase-ass1-gene-impact-on-patients-common-changes-and-structural-considerations
#4
Carmen Diez-Fernandez, Véronique Rüfenacht, Johannes Häberle
Citrullinemia type 1 is an autosomal recessive urea cycle disorder caused by defects in the argininosuccinate synthetase (ASS) enzyme due to mutations in ASS1 gene. An impairment of ASS function can lead to a wide spectrum of phenotypes, from life-threatening neonatal hyperammonemia to a later onset with mild symptoms, and even some asymptomatic patients exhibiting an only biochemical phenotype. The disease is panethnic. In this update, we report 137 mutations (64 of which are novel), consisting of 89 missense mutations, 19 nonsense mutations, 17 mutations that affect splicing and 12 deletions...
January 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28087478/renal-involvement-in-lysinuric-protein-intolerance-contribution-of-pathology-to-assessment-of-heterogeneity-of-renal-lesions
#5
Emmanuel Estève, Pauline Krug, Aurélie Hummel, Jean-Baptiste Arnoux, Olivia Boyer, Anais Brassier, Pascale de Lonlay, Vincent Vuiblet, Stéphanie Gobin, Rémi Salomon, Christine Piètrement, Jean-Paul Bonnefont, Aude Servais, Louise Galmiche
Lysinuric protein intolerance (LPI) is a rare autosomal recessive disease caused by mutations in the SLC7A7 gene encoding the light subunit of a cationic amino acid transporter. Symptoms mimic primary urea cycle defects but dysimmune symptoms are also described. Renal involvement in LPI was first described in the 1980's. In 2007, it appeared that it could concern as much as 75% of LPI patients and could lead to end stage renal disease. The most common feature is proximal tubular dysfunction and nephrocalcinosis but glomerular lesions are also reported...
January 10, 2017: Human Pathology
https://www.readbyqxmd.com/read/28062886/milder-form-of-urea-cycle-defect-revisited-report-and-review-of-hyperornithinaemia-hyperammonaemia-homocitrullinuria-hhh-syndrome-diagnosed-in-a-teenage-girl-presenting-with-recurrent-encephalopathy
#6
REVIEW
Syeda Kashfi Qadri, Teck Wah Ting, James Sc Lim, Saumya Shekhar Jamuar
No abstract text is available yet for this article.
December 2016: Annals of the Academy of Medicine, Singapore
https://www.readbyqxmd.com/read/27997078/hiding-in-plain-sight-a-case-of-ornithine-transcarbamylase-deficiency-unmasked-post-liver-transplantation
#7
Meera Ramanathan, Suresh Uppalapu, Nayan M Patel
Ornithine transcarbamylase deficiency represents the most common inherited defect of the urea cycle. This enzyme, predominantly found in the liver, plays a crucial role in recycling free ammonia, with deficiencies often leading to fatal complications. Here, we present the case of a 63-year-old male with alcoholic cirrhosis who underwent orthotopic liver transplantation, gradual worsening of his mental status and progressive elevation of ammonia levels. Liver allograft function was deemed normal, raising concern for a donor derived metabolic disorder of the urea cycle...
December 20, 2016: American Journal of Transplantation
https://www.readbyqxmd.com/read/27977298/the-chemical-chaperone-phenylbutyrate-rescues-mct8-mutations-associated-with-milder-phenotypes-in-patients-with-ahds
#8
Doreen Braun, Ulrich Schweizer
Mutations in the thyroid hormone transporter MCT8 prevent appropriate entry of thyroid hormones into brain cells during development and cause severe mental retardation in affected patients. Current treatment options are thyromimetic compounds that enter the brain independent of MCT8. Some MCT8 deficient patients (e.g. those carrying MCT8(delF501)) are not as severely affected than most others. We have shown that MCT8(delF501) protein has decreased protein stability, but significant residual function once it reaches the plasma membrane...
December 15, 2016: Endocrinology
https://www.readbyqxmd.com/read/27960433/engineering-the-li-storage-properties-of-graphene-anodes-defect-evolution-and-pore-structure-regulation
#9
Zhuzhu Du, Wei Ai, Chencheng Sun, Chenji Zou, Jianfeng Zhao, Yu Chen, Xiaochen Dong, Juqing Liu, Gengzhi Sun, Ting Yu, Wei Huang
A general and mild strategy for fabricating defect-enriched graphene mesh (GM) and its application toward the anode of Li-ion batteries (LIBs) has been reported. The GM with a pore size of 60-200 nm is achieved by employing Fe2O3 as the etching reagent that is capable of locally etching the graphene basal plane in a relatively mild manner. Upon different drying technologies, that is, oven drying and freeze-drying, GMs with different porous structure are obtained. The electrochemical Li storage properties of GMs in comparison with graphene aerogels (GAs) disclose that both defect sites and porous structure are crucial for the final anodic performances...
December 14, 2016: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/27747338/robust-regulation-of-hepatic-pericentral-amination-by-glutamate-dehydrogenase-kinetics
#10
Soumen Bera, Sanjay Lamba, Mubasher Rashid, Anuj K Sharma, Alexander B Medvinsky, Claudia Acquisti, Amit Chakraborty, Bai-Lian Li
Impaired glutamate dehydrogenase (GDH) sensitivity to its inhibitors causes excessive insulin secretion by pancreatic beta-cells and defective ammonia metabolism in the liver. These symptoms are commonly associated with hyperinsulinism/hyperammonemia syndrome (HI/HA), which causes recurrent hypoglycaemia in early infancy. Hepatic localization of GDH amination and deamination activities linked with the urea cycle is known to be involved in ammonia metabolism and detoxification. Although deamination activities of hepatic GDH in the periportal zones of liver lobules and its connection to the urea cycle have been exhaustively investigated, physiological roles of GDH amination activity observed at pericentral zones have often been overlooked...
October 17, 2016: Integrative Biology: Quantitative Biosciences From Nano to Macro
https://www.readbyqxmd.com/read/27544473/amenable-treatable-severe-pediatric-epilepsies
#11
Phillip L Pearl
Vitamin-dependent epilepsies and multiple metabolic epilepsies are amenable to treatment that markedly improves the disease course. Knowledge of these amenably treatable severe pediatric epilepsies allows for early identification, testing, and treatment. These disorders present with various phenotypes, including early onset epileptic encephalopathy (refractory neonatal seizures, early myoclonic encephalopathy, and early infantile epileptic encephalopathy), infantile spasms, or mixed generalized seizure types in infancy, childhood, or even adolescence and adulthood...
May 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/27538463/clinical-course-of-63-patients-with-neonatal-onset-urea-cycle-disorders-in-the-years-2001-2013
#12
Caroline Unsinn, Anibh Das, Vassili Valayannopoulos, Eva Thimm, Skadi Beblo, Alberto Burlina, Vassiliki Konstantopoulou, Sebene Mayorandan, Pascale de Lonlay, Jörg Rennecke, Jens Derbinski, Georg F Hoffmann, Johannes Häberle
BACKGROUND: Urea cycle disorders (UCDs) are rare inherited metabolic defects of ammonia detoxification. In about half of patients presenting with a UCD, the first symptoms appear within a few days after birth. These neonatal onset patients generally have a severe defect of urea cycle function and their survival and outcome prognoses are often limited. To understand better the current situation of neonatal onset in UCDs, we have performed a multicentre, retrospective, non-interventional case series study focussing on the most severe UCDs, namely defects of carbamoyl phosphate synthetase 1 (CPS1), ornithine transcarbamylase (OTC), and argininosuccinate synthetase (ASS)...
August 19, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27267344/metabolite-mapping-reveals-severe-widespread-perturbation-of-multiple-metabolic-processes-in-huntington-s-disease-human-brain
#13
Stefano Patassini, Paul Begley, Jingshu Xu, Stephanie J Church, Suzanne J Reid, Eric H Kim, Maurice A Curtis, Mike Dragunow, Henry J Waldvogel, Russell G Snell, Richard D Unwin, Richard L M Faull, Garth J S Cooper
Huntington's disease (HD) is a genetically-mediated neurodegenerative disorder wherein the aetiological defect is a mutation in the Huntington's gene (HTT), which alters the structure of the huntingtin protein (Htt) through lengthening of its polyglutamine tract, thus initiating a cascade that ultimately leads to premature death. However, neurodegeneration typically manifests in HD only in middle age, and mechanisms linking the causative mutation to brain disease are poorly understood. Brain metabolism is severely perturbed in HD, and some studies have indicated a potential role for mutant Htt as a driver of these metabolic aberrations...
September 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27242398/neuropathological-mechanisms-of-seizures-in-autism-spectrum-disorder
#14
REVIEW
Richard E Frye, Manuel F Casanova, S Hossein Fatemi, Timothy D Folsom, Teri J Reutiman, Gregory L Brown, Stephen M Edelson, John C Slattery, James B Adams
This manuscript reviews biological abnormalities shared by autism spectrum disorder (ASD) and epilepsy. Two neuropathological findings are shared by ASD and epilepsy: abnormalities in minicolumn architecture and γ-aminobutyric acid (GABA) neurotransmission. The peripheral neuropil, which is the region that contains the inhibition circuits of the minicolumns, has been found to be decreased in the post-mortem ASD brain. ASD and epilepsy are associated with inhibitory GABA neurotransmission abnormalities including reduced GABAA and GABAB subunit expression...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27215558/improving-long-term-outcomes-in-urea-cycle-disorders-report-from-the-urea-cycle-disorders-consortium
#15
Susan E Waisbren, Andrea L Gropman, Mark L Batshaw
The Urea Cycle Disorders Consortium (UCDC) has conducted, beginning in 2006, a longitudinal study (LS) of eight enzyme deficiencies/transporter defects associated with the urea cycle. These include N-acetylglutamate synthase deficiency (NAGSD); Carbamyl phosphate synthetase 1 deficiency (CPS1D); Ornithine transcarbamylase deficiency (OTCD); Argininosuccinate synthetase deficiency (ASSD) (Citrullinemia); Argininosuccinate lyase deficiency (ASLD) (Argininosuccinic aciduria); Arginase deficiency (ARGD, Argininemia); Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome (or mitochondrial ornithine transporter 1 deficiency [ORNT1D]); and Citrullinemia type II (mitochondrial aspartate/glutamate carrier deficiency [CITRIN])...
July 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27183949/auxiliary-partial-orthotopic-liver-transplant-for-criggler-najjar-syndrome-report-of-2-cases-from-pakistan
#16
Faisal Saud Dar, Abu Bakar Hafeez Bhatti, Syeda Shaheera Hashmi, Haseeb Zia, Munir Iqbal Malik
Auxiliary partial orthotopic liver transplant (APOLT) is a treatment option for certain liver disorders where liver structure is preserved. It includes Criggler Najjar syndrome (CNS), urea cycle defects and familial hypercholesterolaemia. Liver transplant as a treatment modality has only recently become available in Pakistan. Here we report two paediatric cases of CNS type 1 where auxiliary liver transplant was performed to correct jaundice and prevent inevitable brain damage. Both recipients and their respective living donors had successful surgery and are doing well...
May 2016: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/27150549/loss-of-hep-par-1-immunoreactivity-in-the-livers-of-patients-with-carbamoyl-phosphate-synthetase-1-deficiency
#17
Maki Yamaguchi, Tatsuki R Kataoka, Takahiro Shibayama, Akinari Fukuda, Atsuko Nakazawa, Sachiko Minamiguchi, Takaki Sakurai, Aya Miyagawa-Hayashino, Toru Yorifuji, Mureo Kasahara, Shinji Uemoto, Hironori Haga
The hepatocyte paraffin 1 (Hep Par 1) antibody is widely used as a hepatocyte marker, recognizing carbamoyl phosphate synthetase 1 (CPS1), an essential component of the urea cycle. Various missense, nonsense, and frameshift mutations occur in the CPS1 gene. In neonatal patients with homozygous CPS1 deficiency (CPS1D), urea cycle defects with resulting severe hyperammonemia can be fatal, though liver transplantation provides a complete cure for CPS1D. We performed Hep Par 1 immunostaining in the explanted livers of 10 liver transplant patients with CPS1D...
June 2016: Pathology International
https://www.readbyqxmd.com/read/27147233/hyperammonemia-due-to-adult-onset-n-acetylglutamate-synthase-deficiency
#18
Anne-Els van de Logt, Leo A J Kluijtmans, Marleen C D G Huigen, Mirian C H Janssen
A 59-year-old woman, with a medical history of intellectual disability after perinatal asphyxia, was admitted because of coma due to hyperammonemia after she was treated for a fracture of the pelvis. The ammonia level was 280 μM. Acquired disorders as explanation for the hyperammonemia were excluded. Metabolic investigations showed an elevated glutamine and alanine and low citrulline, suspect for a urea cycle defect (UCD). Orotic acid could not be demonstrated in urine. DNA investigations were negative for mutations or deletions in the OTC and CPS1 gene, but revealed a homozygous c...
2017: JIMD Reports
https://www.readbyqxmd.com/read/27038397/inborn-error-metabolic-screening-in-individuals-with-nonsyndromic-autism-spectrum-disorders
#19
Jaume Campistol, María Díez-Juan, Laura Callejón, Aroa Fernandez-De Miguel, Mercedes Casado, Angels Garcia Cazorla, Reymundo Lozano, Rafael Artuch
AIM: To perform metabolic testing on 406 patients (age range 3-22y [mean 6.71, SD 4.15], 343 males and 63 females) with nonsyndromic autism spectrum disorders (ASD) to assess the diagnostic yield. In addition, we reviewed our hospital's clinical database of 8500 patients who had undergone metabolic testing to be identified for inborn errors of metabolism (IEM), and described the characteristics of those with IEM and nonsyndromic ASD. METHOD: Neuropsychological evaluation included the Social Communication Questionnaire and Child Behavior Checklist...
August 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27037498/understanding-n-acetyl-l-glutamate-synthase-deficiency-mutational-spectrum-impact-of-clinical-mutations-on-enzyme-functionality-and-structural-considerations
#20
Enea Sancho-Vaello, Clara Marco-Marín, Nadine Gougeard, Leonor Fernández-Murga, Véronique Rüfenacht, Merima Mustedanagic, Vicente Rubio, Johannes Häberle
N-acetyl-L-glutamate synthase (NAGS) deficiency (NAGSD), the rarest urea cycle defect, is clinically indistinguishable from carbamoyl phosphate synthetase 1 deficiency, rendering the identification of NAGS gene mutations key for differentiation, which is crucial, as only NAGSD has substitutive therapy. Over the last 13 years, we have identified 43 patients from 33 families with NAGS mutations, of which 14 were novel. Overall, 36 NAGS mutations have been found so far in 56 patients from 42 families, of which 76% are homozygous for the mutant allele...
July 2016: Human Mutation
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