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JIMD Reports

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https://www.readbyqxmd.com/read/29147990/assessment-of-the-effect-of-once-daily-nitisinone-therapy-on-24-h-urinary-metadrenalines-and-5-hydroxyindole-acetic-acid-excretion-in-patients-with-alkaptonuria-after-4-weeks-of-treatment
#1
A S Davison, B Norman, A M Milan, A T Hughes, M Khedr, J Rovensky, J A Gallagher, L R Ranganath
BACKGROUND: One of the major metabolic consequences of using nitisinone to treat patients with alkaptonuria is that circulating tyrosine concentrations increase. As tyrosine is required for the biosynthesis of catecholamine neurotransmitters, it is possible that their metabolism is altered as a consequence. Herein we report the 24-h urinary excretion of normetadrenaline (NMA), metadrenaline (MA), 3-methoxytyramine (3-MT) (catecholamine metabolites) and 5-hydroxyindole acetic acid (5-HIAA, metabolite of serotonin) in a cohort of AKU patients before and after a 4-week treatment trial with nitisinone...
November 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29143197/three-cases-of-hereditary-tyrosinaemia-type-1-neuropsychiatric-outcomes-and-brain-imaging-following-treatment-with-ntbc
#2
Helen Walker, Mervi Pitkanen, Yusof Rahman, Sally F Barrington
AIM: To examine neuropsychiatric outcomes in adults with hereditary tyrosinaemia type I (HT-1), treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and correlate these with functional imaging as well as with tyrosine and phenylalanine-tyrosine (Phe:Tyr) ratios. DESIGN: We retrospectively reviewed the medical records of three adult HT-1 patients with a particular focus on their FDG PET/CT brain scans, neuropsychiatric assessment (including neurocognitive assessment and mood and anxiety ratings) as well as mean tyrosine and phenylalanine levels and Phe:Tyr ratios for 3-month period...
November 16, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29124685/mitochondrial-trifunctional-protein-deficiency-severe-cardiomyopathy-and-cardiac-transplantation
#3
C Bursle, R Weintraub, C Ward, R Justo, J Cardinal, D Coman
We describe mitochondrial trifunctional protein deficiency (MTPD) in two male siblings who presented with severe cardiomyopathy in infancy. The first sibling presented in severe cardiac failure at 6 months of age and succumbed soon after. The second sibling came to attention after newborn screening identified a possible fatty acid oxidation defect. Dietary therapy and carnitine supplementation commenced in the neonatal period. Despite this the second child required cardiac transplantation at 3 years of age after a sudden and rapid decline in cardiac function...
November 10, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29119402/a-third-case-of-glycogen-storage-disease-ib-and-giant-cell-tumour-of-the-mandible-a-disease-association-or%C3%A2-iatrogenic-complication-of-therapy
#4
Raajiv Prasad, Jane Estrella, John Christodoulou, Geoffrey McKellar, Michel C Tchan
We report the third case of Glycogen Storage Disease type 1b (GSD 1b) with Giant Cell Tumour (GCT) of the mandible, associated with Granulocyte Colony Stimulating Factor (G-CSF) use. G-CSF in GSD 1b is indicated for persistent neutropaenia, sepsis, inflammatory bowel disease and severe diarrhoea. Our patient was 12 years old at GCT diagnosis and had been treated with G-CSF from 5 years of age. He underwent therapy with interferon followed by local resection which was successful in initial control of the disease...
November 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29086383/early-diagnosed-and-treated-glutaric-acidemia-type-1-female-presenting-with-subependymal-nodules-in-adulthood
#5
Bimal Patel, Surekha Pendyal, Priya S Kishnani, Marie McDonald, Lauren Bailey
Glutaric acidemia type 1 (GA-1, OMIM no. 231670) is an autosomal recessive disorder caused by the deficiency of glutaryl-CoA dehydrogenase (GCDH). The subsequent accumulation of the amino acids lysine, hydroxylysine, and tryptophan and their breakdown intermediates can be neurotoxic and particularly cause injury to the basal ganglia.Roughly 1 of 100,000 infants is affected with GA-1, and a common feature at birth is macrocephaly. Stress, such as in febrile illnesses, can precipitate encephalopathic crises in children generally less than 2 years with variable recovery...
November 1, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29052812/fumarase-deficiency-a-safe-and-potentially-disease-modifying-effect-of-high-fat-low-carbohydrate-diet
#6
B Ryder, F Moore, A Mitchell, S Thompson, J Christodoulou, S Balasubramaniam
Fumarate hydratase deficiency (FHD) caused by biallelic alterations of the FH (fumarate hydratase) gene is a rare disorder of the tricarboxylic acid cycle, classically characterized by encephalopathy, profound psychomotor retardation, seizures, a spectrum of brain abnormalities and early death in childhood. Less common milder phenotypes with moderate cognitive impairment and long-term survival have been reported. In addition, heterozygous mutations of the FH gene are responsible for hereditary leiomyomatosis and renal cell cancer (HLRCC)...
October 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29030856/mitochondrial-3-hydroxy-3-methylglutaryl-coa-synthase-deficiency-unique-presenting-laboratory-values-and-a-review-of-biochemical-and-clinical-features
#7
Erin Conboy, Filippo Vairo, Matthew Schultz, Katherine Agre, Ross Ridsdale, David Deyle, Devin Oglesbee, Dimitar Gavrilov, Eric W Klee, Brendan Lanpher
We report an 8-month-old infant with decreased consciousness after a febrile episode and reduced oral intake. He was profoundly acidotic but his lactate was normal. Serum triglycerides were markedly elevated and HDL cholesterol was very low. The urine organic acid analysis during the acute episode revealed a complex pattern of relative hypoketotic dicarboxylic aciduria, suggestive of a potential fatty acid oxidation disorder. MRI showed extensive brain abnormalities concerning for a primary energy deficiency...
October 14, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29030855/extended-experience-of-lower-dose-sapropterin-in-irish-adults-with-mild-phenylketonuria
#8
S Doyle, M O'Regan, C Stenson, J Bracken, U Hendroff, A Agasarova, D Deverell, E P Treacy
Adherence to dietary and treatment recommendations is a long-standing concern for adults and adolescents with PKU and treating clinicians. In about 20-30% of PKU patients, Phe levels may be controlled by tetrahydrobiopterin (BH4) therapy. The European PKU 2017 Guidelines recommends treatment with BH4 for cases of proven long-term BH4 responsiveness, with a recommended dosage of Sapropterin 10-20 mg/kg/day.We report four young Irish patients with mild PKU, known to be BH4 responsive, who were treated with lower doses of Sapropterin for over 7 years...
October 14, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29030854/acute-pancreatitis-secondary-to-severe-hypertriglyceridaemia-in-a-patient-with-type-1a-glycogen-storage-disease-emergent-use-of-plasmapheresis
#9
E Rivers, B C Reynolds, S Bunn, N J Leech, J Straker, H J Lambert
Acute pancreatitis is a well-recognised complication of hypertriglyceridaemia. High serum triglycerides may develop in the autosomal recessive disorder glycogen storage disease (GSD). Plasmapheresis has been effective in reducing triglyceride levels in pancreatitis secondary to other conditions but not previously described in GSD. We describe a 16-year-old male with type 1a GSD who presented with severe abdominal pain, tachycardia and tachypnoea. Abdominal computed tomography (CT) demonstrated acute pancreatitis...
October 14, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28983876/novel-missense-lcat-gene-mutation-associated-with-an-atypical-phenotype-of-familial-lcat-deficiency-in-two-portuguese-brothers
#10
I Castro-Ferreira, Rute Carmo, Sérgio Estrela Silva, Otília Corrêa, Susana Fernandes, Susana Sampaio, Rodrigues-Pereira Pedro, Augusta Praça, João Paulo Oliveira
Familial lecithin-cholesterol acyltransferase deficiency (FLD) is a rare recessive disorder of cholesterol metabolism, caused by loss-of-function mutations in the human LCAT gene, leading to alterations in the lipid/lipoprotein profile, with extremely low HDL levels.The classical FLD phenotype is characterized by diffuse corneal opacification, haemolytic anaemia and proteinuric chronic kidney disease (CKD); an incomplete form, only affecting the corneas, has been reported in a few families worldwide.We describe an intermediate phenotype of LCAT deficiency, with CKD preceding the development of corneal clouding, in two Portuguese brothers apparently homozygous for a novel missense LCAT gene mutation...
October 6, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28980192/clinical-biochemical-and-molecular-features-in-37-saudi-patients-with-very-long-chain-acyl-coa-dehydrogenase-deficiency
#11
Abdulrahman Obaid, Marwan Nashabat, Majid Alfadhel, Ali Alasmari, Fuad Al Mutairi, Abdulrahman Alswaid, Eissa Faqeih, Aziza Mushiba, Marwah Albanyan, Maryam Alalwan, Deborah Marsden, Wafaa Eyaid
BACKGROUND: Very long chain acyl CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessive disorder of fatty acid beta oxidation caused by defect in the ACADVL. The aim of this study was to analyze the clinical, biochemical, and molecular features of VLCAD deficiency in Saudi Arabia, including the treatment and outcome. METHODS: We carried out a retrospective chart review analysis of 37 VLCAD deficiency patients from two tertiary centers in Saudi Arabia, over a 14-year period (2002-2016)...
October 5, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28956315/hyperphenylalaninaemias-in-estonia-genotype-phenotype-correlation-and-comparative-overview-of-the-patient-cohort-before-and-after-nation-wide-neonatal-screening
#12
Hardo Lilleväli, Karit Reinson, Kai Muru, Kristi Simenson, Ülle Murumets, Tõnu Möls, Katrin Õunap
The present study provides a retrospective overview of the cohort of phenylketonuria (PKU) patients in Estonia. Based on the available data, the patients clearly cluster into two distinct groups: the patients with late diagnosis and start of therapy (N = 46), who were born before 1993 when the national newborn screening programme was launched, and the screened babies (N = 48) getting their diagnoses at least in a couple of weeks after birth.Altogether 153 independent phenylalanine hydroxylase (PAH) alleles from 92 patients were analysed in the study, wherein 80% of them were carrying the p...
September 28, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28942493/asymptomatic-corneal-keratopathy-secondary-to%C3%A2-hypertyrosinaemia-following-low-dose-nitisinone-and%C3%A2-a%C3%A2-literature-review-of-tyrosine-keratopathy-in%C3%A2-alkaptonuria
#13
M Khedr, S Judd, M C Briggs, A T Hughes, A M Milan, R M K Stewart, E A Lock, J A Gallagher, L R Ranganath
Nitisinone, although unapproved for use in alkaptonuria (AKU), is currently the only homogentisic acid lowering therapy with a potential to modify disease progression in AKU. Therefore, safe use of nitisinone off-label requires identifying and managing tyrosine keratopathy. A 22-year-old male with AKU commenced 2 mg daily nitisinone after full assessment. He was issued an alert card explaining potential ocular symptoms such as red eye, tearing, ocular pain and visual impairment and how to manage them. On his first and second annual follow-up visits to the National Alkaptonuria Centre (NAC), there was no corneal keratopathy on slit lamp examination...
September 24, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28940169/the-use-of-d2-and-benton-tests-for-assessment-of-attention-deficits-and-visual-memory-in-teenagers-with-phenylketonuria
#14
Bozena Didycz, Magdalena Nitecka, Miroslaw Bik-Multanowski
Hyperphenylalaninemia-related, subtle deficits of attention and of working memory are often reported in adolescents with phenylketonuria. Focused neuropsychological tests can be used to detect such deficits and to confirm the presence of poor metabolic control in the periods between routine blood phenylalanine tests, which are rarely performed in many patients from this age group due to their low treatment adherence.We assessed the practical value of the d2 test of attention and of the Benton visual retention test for identification of teenagers, who have a high risk of brain dysfunction due to hyperphenylalaninemia...
September 24, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28887793/alg13-cdg-with-infantile-spasms-in-a-male-patient-due-to-a-de-novo-alg13-gene-mutation
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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