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JIMD Reports

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https://www.readbyqxmd.com/read/28887793/alg13-cdg-with-infantile-spasms-in-a-male-patient-due-to-a-de-novo-alg13-gene-mutation
#1
Wienke H Galama, Sandra L J Verhaagen-van den Akker, Dirk J Lefeber, Ilse Feenstra, Aad Verrips
A boy presented at the age of 3.5 months with a developmental delay. He developed infantile spasms with hypsarrhytmia on EEG 1 month later. Additional symptoms were delayed visual development, asymmetrical hearing loss, hypotonia, and choreoathetoid movements. He also had some dysmorphic features and was vulnerable for infections. He was treated successively with vigabatrin, prednisolone, valproic acid, nitrazepam, and lamotrigine without a lasting clinical effect, but showed a treatment response to levetiracetam...
September 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28887792/liver-failure-as-the-presentation-of-ornithine-transcarbamylase-deficiency-in-a-13-month-old-female
#2
Farrah Rajabi, Lance H Rodan, Maureen M Jonas, Janet S Soul, Nicole J Ullrich, Ann Wessel, Susan E Waisbren, Wen-Hann Tan, Gerard T Berry
Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle disorder with variable expressivity in heterozygous females. While liver function testing is often abnormal in patients with OTCD, liver failure is uncommon on presentation. A 13-month-old female with no significant past medical history presented with irritability, right arm weakness, and decreased appetite. Initial workup revealed hepatic dysfunction with an INR of 3.4, ammonia level of 75 μmol/L, and abnormal brain MRI with gyral edema with restricted diffusion, and patchy signal abnormality in basal ganglia...
September 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28879639/nitisinone-induced-keratopathy-in-alkaptonuria-a-challenging-diagnosis-despite-clinical-suspicion
#3
Andrew White, Michel C Tchan
Alkaptonuria is a rare disorder of amino acid metabolism that causes premature large joint and spine arthropathy and cardiac valvular disease. It is characterised by elevated levels of homogentisic acid. Nitisinone (NTBC) is a benzoylcyclohexane-1,3-dione that reversibly inhibits the activity of the enzymatic step immediately prior to homogentisate dioxygenase, hence reducing the production of homogentisic acid. Thus it is thought that nitisinone might be a treatment for alkaptonuria. A side effect of NTBC therapy is elevation of plasma tyrosine levels in a manner analogous to tyrosinemia type 2, another related condition which causes a painful palmoplantar hyperkeratosis and eye pathology described as conjunctivitis and herpetic-like corneal ulceration...
September 7, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28856607/natural-history-of-aromatic-l-amino-acid-decarboxylase-deficiency-in-taiwan
#4
Wuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, Mei-Hsin Li
OBJECTIVES: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare inherited disorder of monoamine neurotransmitter synthesis; this deficiency leads to psychomotor delay, hypotonia, oculogyric crises, dystonia, and extraneurological symptoms. This study aimed to provide further insight into the clinical course of AADC deficiency in Taiwan. PATIENTS AND METHODS: We present a retrospective, descriptive, single-center study of 37 children with a confirmed diagnosis of AADC deficiency...
August 31, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28840576/demographic-and-psychosocial-influences-on-treatment-adherence-for-children-and-adolescents-with-pku-a-systematic-review
#5
Emma Medford, Dougal Julian Hare, Anja Wittkowski
Phenylketonuria (PKU) is a rare genetic disorder in which the amino acid phenylalanine cannot be sufficiently metabolised. Although a build-up of phenylalanine causes irreversible cognitive impairment, this can be prevented through a strict, lifelong diet restricted in natural protein. Despite the severe consequences of poor metabolic control, many children and adolescents have phenylalanine levels above their recommended limits. This systematic review was the first to examine studies reporting demographic and/or psychosocial influences on blood phenylalanine levels, with the aim to identify factors that were robustly linked with metabolic control...
August 25, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28836185/high-throughput-screen-fails-to-identify-compounds-that-enhance-residual-enzyme-activity-of-mutant-n-acetyl-%C3%AE-glucosaminidase-in-mucopolysaccharidosis-type-iiib
#6
O L M Meijer, P van den Biggelaar, R Ofman, F A Wijburg, N van Vlies
BACKGROUND: In the severe neurodegenerative disorder mucopolysaccharidosis type IIIB (MPSIIIB or Sanfilippo disease type B), deficiency of the lysosomal enzyme N-acetyl-α-glucosaminidase (NAGLU) results in accumulation of heparan sulfate. Patients present with a severe, rapidly progressing phenotype (RP) or a more attenuated, slowly progressing phenotype (SP). In a previous study, residual NAGLU activity in fibroblasts of SP patients could be increased by culturing at 30°C, probably as a result of improved protein folding and lysosomal targeting under these conditions...
August 24, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28766179/glutaric-aciduria-type-3-three-unrelated-canadian-cases-with-different-routes-of-ascertainment
#7
Paula J Waters, Thomas M Kitzler, Annette Feigenbaum, Michael T Geraghty, Osama Al-Dirbashi, Patrick Bherer, Christiane Auray-Blais, Serge Gravel, Nathan McIntosh, Komudi Siriwardena, Yannis Trakadis, Catherine Brunel-Guitton, Walla Al-Hertani
Glutaric aciduria type 3 (GA3) is associated with decreased conversion of free glutaric acid to glutaryl-coA, reflecting deficiency of succinate-hydroxymethylglutarate coA-transferase, caused by variants in the SUGCT (C7orf10) gene. GA3 remains less well known, characterised and understood than glutaric aciduria types 1 and 2. It is generally considered a likely "non-disease," but this is based on limited supporting information, with only nine individuals with GA3 described in the literature. Clinicians encountering a patient with GA3 therefore still face a dilemma of whether or not this should be dismissed as irrelevant...
August 2, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28755360/mitochondrial-encephalopathy-and-transient-3-methylglutaconic-aciduria-in-echs1-deficiency-long-term-follow-up
#8
Irene C Huffnagel, Egbert J W Redeker, Liesbeth Reneman, Frédéric M Vaz, Sacha Ferdinandusse, Bwee Tien Poll-The
We report the major diagnostic challenge in a female patient with signs and symptoms suggestive of an early-onset mitochondrial encephalopathy. Motor and cognitive development was severely delayed and brain MRI showed signal abnormalities in the putamen and caudate nuclei. Metabolic abnormalities included 3-methylglutaconic aciduria and elevated lactate levels in plasma and cerebrospinal fluid, but were transient. Whole exome sequencing at the age of 25 years finally revealed compound heterozygous mutations c...
July 29, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28755359/four-years-experience-in-the-diagnosis-of-very-long-chain-acyl-coa-dehydrogenase-deficiency-in-infants-detected-in-three-spanish-newborn-screening-centers
#9
B Merinero, P Alcaide, E Martín-Hernández, A Morais, M T García-Silva, P Quijada-Fraile, C Pedrón-Giner, E Dulin, R Yahyaoui, J M Egea, A Belanger-Quintana, J Blasco-Alonso, M L Fernandez Ruano, B Besga, I Ferrer-López, F Leal, M Ugarte, P Ruiz-Sala, B Pérez, C Pérez-Cerdá
Identification of very long-chain acyl-CoA dehydrogenase deficiency is possible in the expanded newborn screening (NBS) due to the increase in tetradecenoylcarnitine (C14:1) and in the C14:1/C2, C14:1/C16, C14:1/C12:1 ratios detected in dried blood spots. Nevertheless, different confirmatory tests must be performed to confirm the final diagnosis. We have revised the NBS results and the results of the confirmatory tests (plasma acylcarnitine profiles, molecular findings, and lymphocytes VLCAD activity) for 36 cases detected in three Spanish NBS centers during 4 years, correlating these with the clinical outcome and treatment...
July 29, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28755358/social-functioning-and-behaviour-in-mucopolysaccharidosis-ih-hurlers-syndrome
#10
Annukka Lehtonen, Stewart Rust, Simon Jones, Richard Brown, Dougal Hare
BACKGROUND: Mucopolysaccharidosis type IH (MPS-IH) [Hurlers Syndrome] is a developmental genetic disorder characterised by severe physical symptoms and cognitive decline. This study aimed to investigate the behavioural phenotype of MPS-IH treated by haematopoietic cell transplantation, focusing on social functioning and sleep. Parental stress was also measured. METHODS: Participants were 22 children with MPS-IH (mean age 9 years 1 month), of whom 10 were male (45%)...
July 29, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28726123/rapidly-progressive-white-matter-involvement-in-early-childhood-the-expanding-phenotype-of-infantile-onset-pompe
#11
A Broomfield, J Fletcher, P Hensman, R Wright, H Prunty, J Pavaine, S A Jones
Glycogen accumulation in the central nervous system of patients with classical infantile onset Pompe disease (IOPD) has been a consistent finding on the few post-mortems performed. While delays in myelination and a possible reduction in processing speed have previously been noted, it has only been recently that the potential for clinically significant progressive white matter disease has been noted. The limited reports thus far published infer that in some IOPD patients, this manifests as intellectual decline in the second decade of life...
July 20, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28726122/beta-ketothiolase-deficiency-presenting-with-metabolic-stroke-after-a-normal-newborn-screen-in-two-individuals
#12
Monica H Wojcik, Klaas J Wierenga, Lance H Rodan, Inderneel Sahai, Sacha Ferdinandusse, Casie A Genetti, Meghan C Towne, Roy W A Peake, Philip M James, Alan H Beggs, Catherine A Brownstein, Gerard T Berry, Pankaj B Agrawal
Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase) deficiency is a genetic disorder characterized by impaired isoleucine catabolism and ketone body utilization that predisposes to episodic ketoacidosis. It results from biallelic pathogenic variants in the ACAT1 gene, encoding mitochondrial beta-ketothiolase. We report two cases of beta-ketothiolase deficiency presenting with acute ketoacidosis and "metabolic stroke." The first patient presented at 28 months of age with metabolic acidosis and pallidal stroke in the setting of a febrile gastrointestinal illness...
July 20, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28710748/longitudinal-changes-in-white-matter-fractional-anisotropy-in-adult-onset-niemann-pick-disease-type-c-patients-treated-with-miglustat
#13
Elizabeth A Bowman, Dennis Velakoulis, Patricia Desmond, Mark Walterfang
Niemann-Pick disease type C (NPC) is a rare neurometabolic disorder resulting in impaired intracellular lipid trafficking. The only disease-modifying treatment currently available is miglustat, an iminosugar that inhibits the accumulation of lipid metabolites in neurons and other cells. This longitudinal diffusion tensor imaging (DTI) study examined how the rate of white matter change differed between treated and non-treated adult-onset NPC patient groups. Nine adult-onset NPC patients (seven undergoing treatment with miglustat, two not treated) underwent DTI neuroimaging...
July 15, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28702876/cardiovascular-histopathology-of-a-11-year-old-with-mucopolysaccharidosis-vii-demonstrates-fibrosis-macrophage-infiltration-and-arterial-luminal-stenosis
#14
Valerie Lew, Louis Pena, Robert Edwards, Raymond Y Wang
Mucopolysaccharidosis type VII (MPS VII) is caused by β-glucuronidase deficiency, resulting in lysosomal accumulation of glycosaminoglycans (GAGs) and multisystemic disease. We present cardiovascular gross and histopathology findings from a 11-year-old MPS VII male, who expired after developing ventricular fibrillation following anesthesia induction. Gross anatomic observations were made at autopsy; postmortem formalin-fixed paraffin-embedded samples of the carotid artery, aorta, myocardium, and valves were sectioned and stained with hematoxylin-eosin, Verhoeff-Van Gieson, CD68, and trichrome stains...
July 13, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28699143/glutaric-aciduria-type-1-and-acute-renal-failure-case-report-and-suggested-pathomechanisms
#15
Marcel du Moulin, Bastian Thies, Martin Blohm, Jun Oh, Markus J Kemper, René Santer, Chris Mühlhausen
Glutaric aciduria type 1 (GA1) is caused by deficiency of the mitochondrial matrix enzyme glutaryl-CoA dehydrogenase (GCDH), leading to accumulation of glutaric acid (GA) and 3-hydroxyglutaric acid (3OHGA) in tissues and body fluids. During catabolic crises, GA1 patients are prone to the development of striatal necrosis and a subsequent irreversible movement disorder during a time window of vulnerability in early infancy. Thus, GA1 had been considered a pure "cerebral organic aciduria" in the past. Single case reports have indicated the occurrence of acute renal dysfunction in children affected by GA1...
July 12, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28689308/triheptanoin-a-rescue-therapy-for-cardiogenic-shock-in-carnitine-acylcarnitine-translocase-deficiency
#16
Sidharth Mahapatra, Amitha Ananth, Nancy Baugh, Mihaela Damian, Gregory M Enns
Carnitine-acylcarnitine translocase (CACT) deficiency is a rare long-chain fatty acid oxidation disorder (LC-FAOD) with high mortality due to cardiomyopathy or lethal arrhythmia. Triheptanoin (UX007), an investigational drug composed of synthetic medium odd-chain triglycerides, is a novel therapy in development for LC-FAOD patients. However, cases of its safe and efficacious use to reverse severe heart failure in CACT deficiency are limited. Here, we present a detailed report of an infant with CACT deficiency admitted in metabolic crisis that progressed into severe cardiogenic shock who was successfully treated by triheptanoin...
July 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28685493/peripheral-neuropathy-episodic-rhabdomyolysis-and-hypoparathyroidism-in-a-patient-with-mitochondrial-trifunctional-protein-deficiency
#17
Peter van Vliet, Annelies E Berden, Mojca K M van Schie, Jaap A Bakker, Christian Heringhaus, Irenaeus F M de Coo, Mirjam Langeveld, Marielle A Schroijen, M Sesmu Arbous
A combination of unexplained peripheral neuropathy, hypoparathyroidism, and the inability to cope with metabolic stress could point to a rare inborn error of metabolism, such as mitochondrial trifunctional protein (MTP) deficiency.Here, we describe a 20-year-old woman who was known since childhood with axonal motor sensory polyneuropathy of unknown origin. She presented with progressive dyspnoea, and increased muscle weakness, preceded by 6 days of fever, vomiting, and diarrhoea. Laboratory testing showed rhabdomyolysis, and hypocalcaemia with low parathyroid levels...
July 7, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28685492/role-of-intramuscular-levofolinate-administration-in%C3%A2-the%C3%A2-treatment-of-hereditary-folate-malabsorption-report-of-three-cases
#18
Emanuela Manea, Paul Gissen, Simon Pope, Simon J Heales, Spyros Batzios
Hereditary folate malabsorption is a rare autosomal recessive disorder caused by impaired active folate transport across membranes and into the central nervous system due to loss-of-function mutations in proton-coupled folate transporter (PCFT). Newborns with this condition have initially normal folate stores, but as they are unable to absorb dietary folate and use rapidly their stores because of their growth demands, symptoms appear in the early infancy. Significant neurological morbidity usually follows the initial non-specific clinical presentation and delayed initiation of treatment...
July 7, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28685491/the-prevalence-of-pmm2-cdg-in-estonia-based-on-population-carrier-frequencies-and-diagnosed-patients
#19
Mari-Anne Vals, Sander Pajusalu, Mart Kals, Reedik Mägi, Katrin Õunap
PMM2-CDG (MIM#212065) is the most common type of congenital disorders of glycosylation (CDG) caused by mutations in PMM2 (MIM#601785). In Estonia, five patients from three families have been diagnosed with PMM2-CDG. Our aim was to evaluate the presence of different PMM2-CDG-causing mutations in a population-based cohort and to calculate the expected frequency of PMM2-CDG in Estonia. Also, we analyzed the prevalence of PMM2-CDG based on our patient group data. To calculate the expected frequency of PMM2-CDG, we used the whole genome sequencing data of 2,244 participants from biobank of the Estonian Genome Center, University of Tartu...
July 7, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28685490/successful-pregnancy-in-a-young-woman-with-multiple-acyl-coa-dehydrogenase-deficiency
#20
Annalisa Creanza, Mariella Cotugno, Cristina Mazzaccara, Giulia Frisso, Giancarlo Parenti, Brunella Capaldo
Multiple acyl-CoA dehydrogenation deficiency (MADD) is an inborn disorder of fatty acid oxidation due to a defect in electron transfer to the respiratory chain. We describe the medical/nutritional management of a successful pregnancy in a 19-year-old woman with a known diagnosis of MADD. A high-carbohydrate, low-fat, six-meal diet supplemented with protein was prescribed to meet the nutritional needs during pregnancy. L-Carnitine supplementation was also progressively increased over the weeks. Serum acyl-carnitine profile revealed raised levels of chain-length C6-C14, which remained substantially unchanged during pregnancy...
July 7, 2017: JIMD Reports
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