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JIMD Reports

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https://www.readbyqxmd.com/read/28092092/domains-of-daily-physical-activity-in-children-with-mitochondrial-disease-a-3d-accelerometry-approach
#1
Saskia Koene, Ilse Dirks, Esmee van Mierlo, Pascal R de Vries, Anjo J W M Janssen, Jan A M Smeitink, Arjen Bergsma, Hans Essers, Kenneth Meijer, Imelda J M de Groot
Feasible, sensitive and clinically relevant outcome measures are of extreme importance when designing clinical trials. For paediatric mitochondrial disease, no robust end point has been described to date. The aim of this study was to select the domains of daily physical activity, which can be measured by 3D accelerometry, that could serve as sensitive end points in future clinical trials in children with mitochondrial disorders.In this exploratory observational study, 17 patients with mitochondrial disease and 16 age- and sex-matched controls wore 3D accelerometers at the upper leg, upper arm, lower arm and chest during one weekend...
January 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28092091/preliminary-results-on-long-term-potentiation-like-cortical-plasticity-and-cholinergic-dysfunction-after-miglustat-treatment-in-niemann-pick-disease-type-c
#2
Alberto Benussi, Maria Sofia Cotelli, Maura Cosseddu, Valeria Bertasi, Marinella Turla, Ettore Salsano, Andrea Dardis, Alessandro Padovani, Barbara Borroni
Niemann-Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder, which manifests clinically with a wide range of neurological signs and symptoms. We assessed multiple neurological, neuropsychological and neurophysiological biomarkers using a transcranial magnetic stimulation (TMS) multi-paradigm approach in two patients with NPC carrying a homozygous mutation in the NPC1 gene, and in two heterozygous family members.We assessed short-interval intracortical inhibition (SICI), intracortical facilitation (ICF), long-interval intracortical inhibition (LICI), short-latency afferent inhibition (SAI) and long-term potentiation (LTP)-like cortical plasticity with a paired associative stimulation (PAS) protocol...
January 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28092090/prevalence-of-mucopolysaccharidosis-types-i-ii-and-vi-in-the-pediatric-and-adult-population-with-carpal-tunnel-syndrome-cts-retrospective-and-prospective-analysis-of-patients-treated-for-cts
#3
Mette Borch Nørmark, Nanna Kjaer, Allan Meldgaard Lund
BACKGROUND: We wanted to investigate whether the prevalence of mucopolysaccharidoses (MPS) I, II, and VI was higher than expected in a selected cohort of patients with carpal tunnel syndrome (CTS). CTS is a common finding in patients with MPS, and therefore we screened patients who had undergone surgery for CTS for undiagnosed MPS. PATIENTS AND METHODS: Patients who had been operated for CTS were found in databases from two hospitals. Furthermore, patients who had undergone surgery for CTS when under the age of 18 were retrieved from the National Patient Registry...
January 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28078493/false-positive-newborn-screen-using-the-beutler-spot-assay-for-galactosemia-in-glucose-6-phosphate-dehydrogenase-deficiency
#4
Grace Stuhrman, Stefanie J Perez Juanazo, Kea Crivelly, Jennifer Smith, Hans Andersson, Eva Morava
Classical galactosemia is detected through newborn screening by measuring galactose-1-phosphate uridylyltransferase (GALT) in the USA primarily via the Beutler spot assay. We report on an 18-month-old patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency that was originally diagnosed with classical galactosemia. The patient presented with elevated liver function enzymes and bilirubinemia and was immediately treated with soy-based formula. Confirmatory tests revealed deficiency of the GALT enzyme, however, full-sequencing of GALT was normal, suggestive of a different ideology...
January 12, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28044261/cognitive-development-in-a-young-child-with-mucolipidosis-type-iv-a-case-report
#5
Evelyn L Fisher, Rose A Sevcik, MaryAnn Romski
Mucolipidosis Type IV (ML IV) is an autosomal recessive genetic disorder characterized by severe psychomotor impairments and ophthalmologic abnormalities. Reports on the cognitive development of people with ML IV are limited, but suggest that achievement of language and cognitive milestones varies between a 3- and 18-month level. There is also variability in reports of whether people with ML IV make developmental progress, regress, or remain static after infancy. This study examines the longitudinal development of a young child with ML IV who participated in an augmentative and alternative communication (AAC) intervention...
January 3, 2017: JIMD Reports
https://www.readbyqxmd.com/read/27995581/bone-health-in-classic-galactosemia-systematic-review-and-meta-analysis
#6
Britt van Erven, Lindsey Welling, Sandra C van Calcar, Artemis Doulgeraki, François Eyskens, Joanna Gribben, Eileen P Treacy, Rein Vos, Susan E Waisbren, M Estela Rubio-Gozalbo, Annet M Bosch
INTRODUCTION: Previous studies have reported an association between classic galactosemia (CG) and decreased bone mass. The primary objective of this systematic review with meta-analysis was to determine the extent of bone mineral density (BMD) Z-score reduction. Low BMD was defined as a Z-score ≤-2 standard deviations (SD). The secondary objective was to evaluate other indicators of bone status through a descriptive analysis. METHODS: Systematic search strategies were developed by an experienced clinical librarian...
December 20, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27943071/analysis-of-melanin-like-pigment-synthesized-from-homogentisic-acid-with-or-without-tyrosine-and-its-implications-in-alkaptonuria
#7
Adam M Taylor, Koen P Vercruysse
Alkaptonuria is an iconic disease used by Archibald Garrod to demonstrate the theory of "inborn errors of metabolism". AKU knowledge has advanced in recent years: development of an in vitro model, discovery of murine models and advances in understanding bone and cartilage phenotypes and arthropathy in AKU. These discoveries have aided in a new clinical trial into nitisinone. However, there are still knowledge gaps surrounding the pigment in AKU and the pigmentation process. We demonstrate an advance in the understanding in the kinetics and chemistry of the polymerisation of homogentisic acid (HGA) into its pigment using size-exclusion chromatography and IR spectroscopy...
December 10, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27943070/development-of-a-tandem-mass-spectrometry-method-for-rapid-measurement-of-medium-and-very-long-chain-acyl-coa-dehydrogenase-activity-in-fibroblasts
#8
Damien Bouvier, Christine Vianey-Saban, Séverine Ruet, Cécile Acquaviva
Mitochondrial fatty acid oxidation is a vital biochemical process for energy metabolism. Among the known fatty-acid metabolism disorders, very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency count among the most frequent. Both are potentially very serious diseases as they carry a risk of severe neurological post-crisis sequelae, and even sudden death. Diagnosis relies on plasma acylcarnitine profile analysis and urine organic acid analysis, followed by genetic testing to confirm diagnosis...
December 10, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27933557/atypical-presentation-and-treatment-response-in-a-child-with-familial-hypercholesterolemia-having-a-novel-ldlr-mutation
#9
S Varma, A D McIntyre, R A Hegele
Familial hypercholesterolemia (FH) is an autosomal codominantly inherited disease. The severity of clinical presentation depends on the zygosity of the mutations in the LDLR, APOB, or PCSK9 genes. The homozygous form (HoFH) is associated with high mortality rate by third decade of life, while individuals with HeFH begin to suffer from premature cardiovascular disease in fourth or fifth decade of life. Statin drugs have helped to improve the biochemical profile and life expectancy in HeFH, while they are only minimally effective in HoFH...
December 9, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27928778/previously-unreported-biallelic-mutation-in-dnajc19-are-sensorineural-hearing-loss-and-basal-ganglia-lesions-additional-features-of-dilated-cardiomyopathy-and-ataxia-dcma-syndrome
#10
Sema Kalkan Ucar, Johannes A Mayr, René G Feichtinger, Ebru Canda, Mahmut Çoker, Saskia B Wortmann
BACKGROUND: Dilated cardiomyopathy (DCM), non-progressive cerebellar ataxia (A), testicular dysgenesis, growth failure, and 3-methylglutaconic aciduria are the hallmarks of DNAJC19 defect (or DCMA syndrome) due to biallelic mutations in DNAJC19. To date DCMA syndrome has been reported in 19 patients from Canada and in two Finnish siblings. The underlying pathomechanism is unknown; however, DNAJC19 is presumed to be involved in mitochondrial membrane related processes (e.g., protein import and cardiolipin remodeling)...
December 8, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27928777/clinical-and-mutational-characterizations-of-ten-indian-patients-with-beta-ketothiolase-deficiency
#11
Elsayed Abdelkreem, Radha Rama Devi Akella, Usha Dave, Sudhir Sane, Hiroki Otsuka, Hideo Sasai, Yuka Aoyama, Mina Nakama, Hidenori Ohnishi, Shaimaa Mahmoud, Mohamed Abd El Aal, Toshiyuki Fukao
Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase (T2) deficiency) is an inherited disease of isoleucine catabolism and ketone body utilization caused by ACAT1 mutations. We identified ten Indian patients who manifested with ketoacidotic episodes of variable severity. The patients showed increased urinary excretion of isoleucine-catabolic intermediates: 2-methyl-3-hydroxybutyrate, 2-methylacetoacetate, and tiglylglycine. Six patients had a favorable outcome, one died, and three developed neurodevelopmental sequela...
December 8, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27928776/the-risk-of-fatty-acid-oxidation-disorders-and-organic-acidemias-in-children-with-normal-newborn-screening
#12
Callum Wilson, Detlef Knoll, Mark de Hora, Campbell Kyle, Emma Glamuzina, Dianne Webster
New Zealand has undertaken expanded newborn screening since 2006. During that period there have been no reported cases of fatty acid oxidation disorders or organic acidemias that have been diagnosed clinically that the screening programme missed. However there may have been patients that presented clinically that were not diagnosed correctly or notified.In order to investigate the false-negative screening rate a case-control study was undertaken whereby the clinical coding data and relevant medical records were reviewed for 150 controls and 525 cases...
December 8, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27928775/lysosomal-storage-disorders-in-nonimmune-hydrops-fetalis-nihf-an-indian-experience
#13
Jayesh Sheth, Mehul Mistri, Krati Shah, Mayank Chaudhary, Koumudi Godbole, Frenny Sheth
Lysosomal storage disorders (LSD) are rare inherited neurovisceral inborn errors of metabolism which may present as nonimmune hydrops fetalis (NIHF) during pregnancy. Although causes of NIHF are highly diverse, LSDs are one of the underlying causes of NIHF. The aim of this study was to elucidate most frequent causes of LSDs presenting as NIHF in Indian population. Several fetal tissues were investigated for enzymatic diagnosis of LSDs using modified fluorometric assays in the current prospective study carried out at our national tertiary center from 2006 through 2016...
December 8, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27900673/expansion-of-the-phenotypic-spectrum-of-propionic-acidemia-with-isolated-elevated-propionylcarnitine
#14
Gerarda Cappuccio, Paldeep S Atwal, Taraka R Donti, Kiki Ugarte, Nadia Merchant, William J Craigen, V Reid Sutton, Sarah H Elsea
We report three patients with elevations of propionylcarnitine (C3), one without elevations of 2-methylcitrate and 3-hydroxypropionate in urine organic acid analysis, and the other two showing only mild elevations, all of whom were subsequently confirmed to have propionic acidemia by molecular analysis of PCCA and PCCB genes. To date, they have had a mild clinical course. These cases illustrate the importance of considering high C3 as the only biochemical abnormality in a diagnosis of propionic acidemia. Since mild C3 elevations may be overlooked and considered non-diagnostic in isolation, we advise considering a diagnosis of propionic acidemia even in the absence of significant elevations 2-methylcitrate or 3-hydroxypropionate in urine organic acid analysis...
November 30, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27858373/vitamin-b12-administration-by-subcutaneous-catheter-device-in-a-cobalamin-a-cbla-patient
#15
E Maines, G Morandi, G Gugelmo, F Ion-Popa, N Campostrini, A Pasini, M Vincenzi, F Teofoli, M Camilot, A Bordugo
Cobalamin A deficiency (cblA) is an inherited disorder of intracellular cobalamin metabolism, caused by impaired 5'-deoxy-adenosylcobalamin (AdoCbl) synthesis. Hydroxocobalamin (OHCbl) is the cornerstone of cblA treatment because vitamin B12 may completely restore AdoCbl deficiency. Parenteral administration, intravenous, subcutaneous or intramuscular, is generally required to achieve effect. Daily injections represent a problem for the parents and the caregivers, and this may lead to poor compliance and scarce adherence to the long-term treatment...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27858372/severe-respiratory-acidosis-in-status-epilepticus-as-a-possible-etiology-of-sudden-death-in-lesch-nyhan-disease-a-case-report-and-review-of-the-literature
#16
Alison Christy, William Nyhan, Jenny Wilson
INTRODUCTION: Lesch-Nyhan disease (LND) is an X-linked disorder of purine metabolism, associated with self-mutilation, dystonia, and chorea. Seizures are uncommon in LND. Patients with LND are at risk for sudden and unexpected death. The etiology of this is unknown, but appears to occur from a respiratory process. We propose that respiratory failure secondary to subclinical seizure may lead to sudden death in these patients. CASE: We report a case of an 11-year-old boy with LND who had two episodes of nocturnal gasping...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27858371/hyperammonemia-as-a-presenting-feature-in-two-siblings-with-fbxl4-variants
#17
Sarah U Morton, Edward G Neilan, Roy W A Peake, Jiahai Shi, Klaus Schmitz-Abe, Meghan Towne, Kyriacos Markianos, Sanjay P Prabhu, Pankaj B Agrawal
Early-onset mitochondrial encephalomyopathy is a rare disorder that presents in the neonatal period with lactic acidosis, hypotonia, and developmental delay. Sequence variants in the nuclear-encoded gene FBXL4 have been previously demonstrated to be a cause of early-onset mitochondrial encephalomyopathy in several unrelated families. We have identified a pair of siblings with mutations in FBXL4 who each presented in the neonatal period with hyperammonemia, low plasma levels of aspartate, low urine levels of tricarboxylic acid cycle intermediates suggesting a defect in anaplerosis, and cerebellar hypoplasia in addition to lactic acidosis and other classic signs of mitochondrial encephalomyopathy...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27858370/intracranial-hypertension-in-cystinosis-is-a-challenge-experience-in-a-children-s-hospital
#18
Nieves Martín-Begué, Silvia Alarcón, Charlotte Wolley-Dod, Luis Enrique Lara, Álvaro Madrid, Paola Cano, Mireia Del Toro, Gema Ariceta
BACKGROUND: Cystinosis is a rare systemic lysosomal disease affecting mainly the kidney and eye. Ocular involvement in cystinosis is universal being the presence of cystine crystals in the cornea a diagnostic criterion and one of the earliest manifestations of the disease. Neuro-ophthalmologic manifestations are considered a rare and late complication in these patients. The aim of this article is to report the unexpectedly high incidence of intracranial hypertension in children with cystinosis at our centre...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27858369/cerebrotendinous-xanthomatosis-presenting-with-infantile-spasms-and-intellectual-disability
#19
Austin Larson, James D Weisfeld-Adams, Tim A Benke, Penelope E Bonnen
Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism leading to progressive multisystem disease. Symptoms often begin in the first decade of life with chronic diarrhea, cataracts, developmental delay, intellectual disability, and cerebellar or pyramidal dysfunction. Later manifestations include tendon xanthomas, polyneuropathy, and abnormal neuroimaging. Pathogenic biallelic variants in CYP27A1 leading to compromised function of sterol 27-hydroxylase result in accumulation of detectable toxic intermediates of bile acid synthesis rendering both genetic and biochemical testing effective diagnostic tools...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27815844/incidence-and-geographic-distribution-of-succinic-semialdehyde-dehydrogenase-ssadh-deficiency
#20
Savita Verma Attri, Pratibha Singhi, Natrujee Wiwattanadittakul, Jyotindra N Goswami, Naveen Sankhyan, Gajja S Salomons, Jean-Baptiste Roullett, Ryan Hodgeman, Mahsa Parviz, K Michael Gibson, Phillip L Pearl
The incidence of succinic semialdehyde dehydrogenase (SSADH) deficiency, an autosomal recessive inherited disorder of GABA degradation, is unknown. Upon a recent diagnosis of a new family of affected fraternal twins from the Punjabi ethnic group of India, case ascertainment from the literature and our database was done to determine the number of confirmed cases along with their geographic distribution. The probands presented with global developmental delay, infantile onset epilepsy, and a persistent neurodevelopmental disorder upon diagnosis at 10 years of age with intellectual disability, expressive aphasia, and behavioral problems most prominent for hyperactivity...
November 5, 2016: JIMD Reports
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