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Journal of Inherited Metabolic Disease

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https://www.readbyqxmd.com/read/28695376/heterozygous-carriers-of-succinyl-coa-3-oxoacid-coa-transferase-deficiency-can-develop-severe-ketoacidosis
#1
Hideo Sasai, Yuka Aoyama, Hiroki Otsuka, Elsayed Abdelkreem, Yasuhiro Naiki, Mitsuru Kubota, Yuji Sekine, Masatsune Itoh, Mina Nakama, Hidenori Ohnishi, Ryoji Fujiki, Osamu Ohara, Toshiyuki Fukao
Succinyl-CoA:3-oxoacid CoA transferase (SCOT, gene symbol OXCT1) deficiency is an autosomal recessive disorder in ketone body utilization that results in severe recurrent ketoacidotic episodes in infancy, including neonatal periods. More than 30 patients with this disorder have been reported and to our knowledge, their heterozygous parents and siblings have had no apparent ketoacidotic episodes. Over 5 years (2008-2012), we investigated several patients that presented with severe ketoacidosis and identified a heterozygous OXCT1 mutation in four of these cases (Case1 p...
July 10, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28695375/rigor-of-non-dairy-galactose-restriction-in-early-childhood-measured-by-retrospective-survey-does-not-associate-with-severity-of-five-long-term-outcomes-quantified-in-231-children-and-adults-with-classic-galactosemia
#2
Allison B Frederick, David J Cutler, Judith L Fridovich-Keil
One of many vexing decisions faced by parents of an infant with classic galactosemia (CG) is how carefully to restrict non-dairy galactose from their growing child's diet. Until recently, many experts recommended vigorous lifelong dietary restriction of milk and all high-galactose dairy products as well as some non-dairy sources of galactose such as legumes and specific fruits and vegetables. Recently, experts have begun to relax their recommendations. The new recommendations, that restrict only high galactose dairy products, were made in the face of uncertainty, however, because no sufficiently powered study had been reported testing for possible association between rigor of non-dairy galactose restriction and severity of long-term outcomes in CG...
July 10, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28687938/a-scoring-system-predicting-the-clinical-course-of-clpb-defect-based-on-the-foetal-and-neonatal-presentation-of-31-patients
#3
Ewa Pronicka, Mariola Ropacka-Lesiak, Joanna Trubicka, Magdalena Pajdowska, Markus Linke, Elsebet Ostergaard, Carol Saunders, Sandra Horsch, Clara van Karnebeek, Joy Yaplito-Lee, Felix Distelmaier, Katrin Õunap, Shamima Rahman, Martin Castelle, John Kelleher, Safa Baris, Katarzyna Iwanicka-Pronicka, Colin G Steward, Elżbieta Ciara, Saskia B Wortmann
Recently, CLPB deficiency has been shown to cause a genetic syndrome with cataracts, neutropenia, and 3-methylglutaconic aciduria. Surprisingly, the neurological presentation ranges from completely unaffected to patients with virtual absence of development. Muscular hypo- and hypertonia, movement disorder and progressive brain atrophy are frequently reported. We present the foetal, peri- and neonatal features of 31 patients, of which five are previously unreported, using a newly developed clinical severity scoring system rating the clinical, metabolic, imaging and other findings weighted by the age of onset...
July 7, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28677031/evaluation-of-c26-0-lysophosphatidylcholine-and-c26-0-carnitine-as-diagnostic-markers-for-zellweger-spectrum-disorders
#4
Femke C C Klouwer, Sacha Ferdinandusse, Henk van Lenthe, Wim Kulik, Ronald J A Wanders, Bwee Tien Poll-The, Hans R Waterham, Frédéric M Vaz
INTRODUCTION: Zellweger spectrum disorders (ZSD) are a group of genetic metabolic disorders caused by a defect in peroxisome biogenesis. This results in multiple metabolic abnormalities, including elevated very long-chain fatty acid (VLCFA) levels. Elevated levels of C26:0-lysophosphatidylcholine (C26:0-lysoPC) have been shown in dried blood spots (DBS) from ZSD patients. However, little is known about the sensitivity and specificity of this marker and C26:0-carnitine, another VLCFA-marker, in ZSD...
July 4, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28653176/amino-acid-synthesis-deficiencies
#5
REVIEW
T J de Koning
In recent years the number of disorders known to affect amino acid synthesis has grown rapidly. Nor is it just the number of disorders that has increased: the associated clinical phenotypes have also expanded spectacularly, primarily due to the advances of next generation sequencing diagnostics. In contrast to the "classical" inborn errors of metabolism in catabolic pathways, in which elevated levels of metabolites are easily detected in body fluids, synthesis defects present with low values of metabolites or, confusingly, even completely normal levels of amino acids...
June 26, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28612263/tight-metabolic-control-plus-ace-inhibitor-therapy-improves-gsd-i-nephropathy
#6
Gyongyi O Okechuku, Lawrence R Shoemaker, Monika Dambska, Laurie M Brown, Justin Mathew, David A Weinstein
The onset of microalbuminuria (MA) heralds the onset of glomerulopathy in patients with glycogen storage disease (GSD) type I. Unlike tubulopathy, which responds to improved metabolic control, glomerulopathy in GSD I is considered refractory to medical intervention, and it is thought to inexorably progress to overt proteinuria and renal failure. Recent reports of reduced microalbuminuria following strict adherence to therapy counter this view. In contrast to type Ia, little is known regarding the prevalence of kidney disease in GSD Ib, 0, III, VI, and IX...
June 13, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28600669/erratum-to-longitudinal-volumetric-and-2d-assessment-of-cerebellar-atrophy-in-a-large-cohort-of-children-with-phosphomannomutase-deficiency-pmm2-cdg
#7
Víctor de Diego, Antonio F Martínez-Monseny, Jordi Muchart, Daniel Cuadras, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Andrea Poretti, Mercedes Serrano
No abstract text is available yet for this article.
June 9, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28593466/high-content-drug-screening-for-rare-diseases
#8
REVIEW
F Bellomo, D L Medina, E De Leo, A Panarella, F Emma
Per definition, rare diseases affect only a small number of subjects within a given population. Taken together however, they represent a considerable medical burden, which remains poorly addressed in terms of treatment. Compared to other diseases, obstacles to the development of therapies for rare diseases include less extensive physiopathology knowledge, limited number of patients to test treatments, and poor commercial interest from the industry. Recently, advances in high-throughput and high-content screening (HTS and HCS) have been fostered by the development of specific routines that use robot- and computer-assisted technologies to automatize tasks, allowing screening of a large number of compounds in a short period of time, using experimental model of diseases...
June 7, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28567541/gene-therapy-for-monogenic-liver-diseases-clinical-successes-current-challenges-and-future-prospects
#9
Julien Baruteau, Simon N Waddington, Ian E Alexander, Paul Gissen
Over the last decade, pioneering liver-directed gene therapy trials for haemophilia B have achieved sustained clinical improvement after a single systemic injection of adeno-associated virus (AAV) derived vectors encoding the human factor IX cDNA. These trials demonstrate the potential of AAV technology to provide long-lasting clinical benefit in the treatment of monogenic liver disorders. Indeed, with more than ten ongoing or planned clinical trials for haemophilia A and B and dozens of trials planned for other inherited genetic/metabolic liver diseases, clinical translation is expanding rapidly...
May 31, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28567540/hearing-loss-in-children-with-fabry-disease
#10
E Suntjens, W A Dreschler, J Hess-Erga, R Skrunes, F A Wijburg, G E Linthorst, C Tøndel, M Biegstraaten
BACKGROUND: Hearing loss (HL) is a well-known feature of Fabry disease (FD). Its presence and characteristics have mainly been studied in adult patients, while only limited data are available on the presence and degree of HL in children with FD. This prompted us to study hearing sensitivity in pediatric FD patients. METHODS: All available audiograms of the Dutch and Norwegian children with FD were retrospectively collected. First, hearing sensitivity was determined by studying hearing thresholds at low, high, and ultra-high frequencies in children with FD and comparing them to zero dB HL, i...
May 31, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28560469/gene-therapy-for-lysosomal-storage-disorders-recent-advances-for-metachromatic-leukodystrophy-and-mucopolysaccaridosis-i
#11
REVIEW
Rachele Penati, Francesca Fumagalli, Valeria Calbi, Maria Ester Bernardo, Alessandro Aiuti
Lysosomal storage diseases (LSDs) are rare inherited metabolic disorders characterized by a dysfunction in lysosomes, leading to waste material accumulation and severe organ damage. Enzyme replacement therapy (ERT) and haematopoietic stem cell transplant (HSCT) have been exploited as potential treatments for LSDs but pre-clinical and clinical studies have shown in some cases limited efficacy. Intravenous ERT is able to control the damage of visceral organs but cannot prevent nervous impairment. Depending on the disease type, HSCT has important limitations when performed for early variants, unless treatment occurs before disease onset...
May 30, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28516284/short-chain-acyl-coa-dehydrogenase-deficiency-from-gene-to-cell-pathology-and-possible-disease-mechanisms
#12
REVIEW
Zahra Nochi, Rikke Katrine Jentoft Olsen, Niels Gregersen
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an inherited disorder of mitochondrial fatty acid oxidation that is characterized by the presence of increased butyrylcarnitine and ethylmalonic acid (EMA) concentrations in plasma and urine. Individuals with symptomatic SCADD may show relatively severe phenotype, while the majority of those who are diagnosed through newborn screening by tandem mass spectrometry may remain asymptomatic. As such, the associated clinical symptoms are very diverse, ranging from severe metabolic or neuromuscular disabilities to asymptomatic...
May 17, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28516283/developmental-window-of-sensorineural-deafness-in-biotinidase-deficient-mice
#13
Kathleen June Maheras, Kirit Pindolia, Barry Wolf, Alexander Gow
Biotinidase deficiency is an autosomal recessively inherited disorder that results in the inability to recycle the vitamin, biotin. If untreated, the disorder can result in a range of neurological and cutaneous symptoms, including sensorineural deficits and deafness. To understand early mechanistic abnormalities that may precede more generalized and nonspecific effects of metabolic deficits such as weight loss and acidosis, we have analyzed auditory brainstem responses (ABRs) in biotinidase-deficient knockout (Btd (-/-) ) mice in the periweaning period with or without dietary biotin supplementation...
May 17, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28477283/linking-mitochondrial-dysfunction-to-neurodegeneration-in-lysosomal-storage-diseases
#14
REVIEW
Afshin Saffari, Stefan Kölker, Georg F Hoffmann, Darius Ebrahimi-Fakhari
Lysosomal storage diseases (LSD) are inborn errors of metabolism resulting in multisystem disease. Central nervous system involvement, often with progressive neurodegeneration, accounts for a large portion of the morbidity and mortality seen in many LSD. Available treatments fail to prevent or correct neurologic symptoms and decline. Emerging evidence points to an important role for mitochondrial dysfunction in the pathogenesis and progression of LSD-associated neurodegeneration. Mitochondrial dysfunction in LSD is characterized by alterations in mitochondrial mass, morphology and function...
May 5, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28466427/carnitine-palmitoyltransferase-1a-deficiency-abnormal-muscle-biopsy-findings-in-a-child-presenting-with-reye-s-syndrome
#15
M Bellusci, P Quijada-Fraile, D Barrio-Carreras, E Martin-Hernandez, M Garcia-Silva, B Merinero, B Perez, A Hernandez-Lain
No abstract text is available yet for this article.
May 2, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28451919/a-novel-conditional-sgsh-knockout-mouse-model-recapitulates-phenotypic-and-neuropathic-deficits-of-sanfilippo-syndrome
#16
Adeline A Lau, Barbara M King, Carly L Thorsen, Sofia Hassiotis, Helen Beard, Paul J Trim, Lauren S Whyte, Sarah J Tamang, Stephen K Duplock, Marten F Snel, John J Hopwood, Kim M Hemsley
Mucopolysaccharidosis (MPS) type IIIA, or Sanfilippo syndrome, is a neurodegenerative lysosomal storage disorder caused by a deficiency of the lysosomal enzyme N-sulfoglucosamine sulfohydrolase (SGSH), involved in the catabolism of heparan sulfate. The clinical spectrum is broad and the age of symptom onset and the degree of preservation of cognitive and motor functions appears greatly influenced by genotype. To explore this further, we generated a conditional knockout (Sgsh (KO) ) mouse model with ubiquitous Sgsh deletion, and compared the clinical and pathological phenotype with that of the spontaneous Sgsh (D31N) MPS-IIIA mouse model...
April 27, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28451918/risk-factors-for-poor-bone-health-in-primary-mitochondrial-disease
#17
Shifa S Gandhi, Colleen Muraresku, Elizabeth M McCormick, Marni J Falk, Shana E McCormack
INTRODUCTION: Primary mitochondrial disease is caused by either mitochondrial or nuclear DNA mutations that impact the function of the mitochondrial respiratory chain. Individuals with mitochondrial disorders have comorbid conditions that may increase their risk for poor bone health. The objective of this retrospective electronic medical record (EMR) review was to examine risk factors for poor bone health in children and adults with primary mitochondrial disease. METHODS: Eighty individuals with confirmed clinical and genetic diagnoses of primary mitochondrial disease at the Children's Hospital of Philadelphia (CHOP) were included in this study...
April 27, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28656511/hyperinsulinemic-hypoglycemia-clinical-molecular-and-therapeutical-novelties
#18
Arianna Maiorana, Carlo Dionisi-Vici
Hyperinsulinemic hypoglycemia (HI) is the most common cause of hypoglycemia in children. Impairment of cellular pathways involved in insulin secretion from pancreatic β-cells, broadly classified as channelopathies and metabolopathies, have been discovered in the past two decades. The increasing use of NGS target panels, combined with clinical, biochemical and imaging findings allows differentiating the diagnostic management of children with focal forms, surgically curable, from those with diffuse forms, more conservatively treated with pharmacological and nutritional interventions...
July 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28653174/erratum-to-what-is-new-in-cdg
#19
Jaak Jaeken, Romain Péanne
No abstract text is available yet for this article.
July 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28643139/cysteamine-revisited-repair-of-arginine-to-cysteine-mutations
#20
REVIEW
L Gallego-Villar, L Hannibal, J Häberle, B Thöny, T Ben-Omran, G K Nasrallah, Al-N Dewik, W D Kruger, H J Blom
Cysteamine is a small aminothiol endogenously derived from coenzyme A degradation. For some decades, synthetic cysteamine has been employed for the treatment of cystinosis, and new uses of the drug continue to emerge. In this review, we discuss the role of cysteamine in cellular and extracellular homeostasis and focus on the potential use of aminothiols to reconstitute the function of proteins harboring arginine (Arg) to cysteine (Cys) mutations, via repair of the Cys residue into a moiety that introduces an amino group, as seen in basic amino acid residues Lys and Arg...
July 2017: Journal of Inherited Metabolic Disease
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