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JIMD Reports

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https://www.readbyqxmd.com/read/28631226/introduction-of-a-simple-second-tier-screening-test-for-c5-isobars-in-dried-blood-spots-reducing-the-false-positive-rate-for-isovaleric-acidaemia-in-expanded-newborn-screening
#1
R S Carling, D Burden, I Hutton, R Randle, K John, J R Bonham
In 2015 the English Newborn Screening programme expanded to include Isovaleric Acidaemia (IVA). Screening is performed by flow injection analysis tandem mass spectrometry of isovalerylcarnitine. Isovalerylcarnitine is isobaric with pivaloylcarnitine which can be present in blood due to the use of pivalic ester pro-drugs or pivalic acid derivatives used as emollients in some nipple creams; the potential for false positives (FP) is well documented. A pilot study in England screened 438,164 babies, 18 had presumptive positive results but only 4 were confirmed as true positives (TP)...
June 20, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28560570/effect-of-lorenzo-s-oil-on-hepatic-gene-expression-and-the-serum-fatty-acid-level-in-abcd1-deficient-mice
#2
Masashi Morita, Ayako Honda, Akira Kobayashi, Yuichi Watanabe, Shiro Watanabe, Kosuke Kawaguchi, Shigeo Takashima, Nobuyuki Shimozawa, Tsuneo Imanaka
Lorenzo's oil is known to decrease the saturated very long chain fatty acid (VLCFA) level in the plasma and skin fibroblasts of X-linked adrenoleukodystrophy (ALD) patients. However, the involvement of Lorenzo's oil in in vivo fatty acid metabolism has not been well elucidated. To investigate the effect of Lorenzo's oil on fatty acid metabolism, we analyzed the hepatic gene expression together with the serum fatty acid level in Lorenzo's oil-treated wild-type and abcd1-deficient mice. The change in the serum fatty acid level in Lorenzo's oil-treated abcd1-defcient mice was quite similar to that in the plasma fatty acid level in ALD patients supplemented with Lorenzo's oil...
May 31, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28540636/gm2-activator-deficiency-caused-by-a-homozygous-exon-2-deletion-in-gm2a
#3
Patricia L Hall, Regina Laine, John J Alexander, Arunkanth Ankala, Lisa A Teot, Hart G W Lidov, Irina Anselm
GM2 activator (GM2A) deficiency (OMIM 613109) is a rare lysosomal storage disorder, with onset typically in infancy or early childhood. Clinically, it is almost indistinguishable from Tay-Sachs disease (OMIM 272800) or Sandhoff disease (OMIM 268800); however, traditionally available biochemical screening tests will most likely reveal normal results. We report a 2-year-old male with initially normal development until the age of 9 months, when he presented with developmental delay and regression. Workup at that time was unrevealing; at 15 months, he had abnormal brain MRI findings and a cherry red spot on ophthalmological examination...
May 25, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28510035/ketone-bodies-as-a-possible-adjuvant-to-ketogenic-diet-in-pdhc-deficiency-but-not-in-glut1-deficiency
#4
F Habarou, N Bahi-Buisson, E Lebigot, C Pontoizeau, M T Abi-Warde, A Brassier, K H Le Quan Sang, C Broissand, S Vuillaumier-Barrot, A Roubertie, A Boutron, C Ottolenghi, P de Lonlay
OBJECTIVE: Ketogenic diet is the first line therapy for neurological symptoms associated with pyruvate dehydrogenase deficiency (PDHD) and intractable seizures in a number of disorders, including GLUT1 deficiency syndrome (GLUT1-DS). Because high-fat diet raises serious compliance issues, we investigated if oral L,D-3-hydroxybutyrate administration could be as effective as ketogenic diet in PDHD and GLUT1-DS. METHODS: We designed a partial or total progressive substitution of KD with L,D-3-hydroxybutyrate in three GLUT1-DS and two PDHD patients...
May 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28510034/improvement-of-fabry-disease-related-gastrointestinal-symptoms-in-a-significant-proportion-of-female-patients-treated-with-agalsidase-beta-data-from-the-fabry-registry
#5
William R Wilcox, Ulla Feldt-Rasmussen, Ana Maria Martins, Alberto Ortiz, Roberta M Lemay, Ana Jovanovic, Dominique P Germain, Carmen Varas, Katherine Nicholls, Frank Weidemann, Robert J Hopkin
Fabry disease, an X-linked inherited lysosomal storage disorder, is caused by mutations in the gene encoding α-galactosidase, GLA. In patients with Fabry disease, glycosphingolipids accumulate in various cell types, triggering a range of cellular and tissue responses that result in a wide spectrum of organ involvement. Although variable, gastrointestinal symptoms are among the most common and significant early clinical manifestations; they tend to persist into adulthood if left untreated. To further understand the effects of sustained enzyme replacement therapy (ERT) with agalsidase beta on gastrointestinal symptoms in heterozygotes, a data analysis of female patients enrolled in the Fabry Registry was conducted...
May 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28488182/successful-management-of-pregnancies-in-patients-with-inherited-disorders-of-ketone-body-metabolism
#6
Raashda Ainuddin Sulaiman, Maha Al-Nemer, Rubina Khan, Munirah Almasned, Bedour S Handoum, Zuhair N Al-Hassnan
Patients with succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency and 3-hydroxy-3-methylglutaryl (HMG)-CoA lyase deficiency are at increased risk of developing metabolic acidosis and hypoglycemia during pregnancy, delivery, and postpartum period. This can be fatal if not treated appropriately. Pregnancy in such patients should be managed in a specialist center by a multidisciplinary team including metabolic physician, high-risk obstetrician, and metabolic dietician. We report two pregnancies in women with SCOT deficiency and HMG-CoA lyase deficiency, which were successfully managed at this tertiary care center...
May 10, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28456887/heterogeneous-phenotypes-in-lipid-storage-myopathy-due-to-etfdh-gene-mutations
#7
Corrado Angelini, Daniela Tavian, Sara Missaglia
We present six novel patients affected by lipid storage myopathy (LSM) presenting mutations in the ETFDH gene. Although the diagnosis of multiple acyl-coenzyme-A dehydrogenase deficiency (MADD) in adult life is difficult, it is rewarding because of the possibility of treating patients with carnitine or riboflavin, leading to a full recovery. In our patients, a combination of precipitating risk factors including previous anorexia, alcoholism, poor nutrition, and pregnancy contributed to a metabolic critical condition that precipitated the catabolic state...
April 30, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28456886/mutations-in-gmppb-presenting-with-pseudometabolic-myopathy
#8
Chiara Panicucci, Chiara Fiorillo, Francesca Moro, Guja Astrea, Giacomo Brisca, Federica Trucco, Marina Pedemonte, Paola Lanteri, Lucia Sciarretta, Carlo Minetti, Filippo M Santorelli, Claudio Bruno
Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene encoding a key enzyme of the glycosylation pathway have been described in families with congenital (CMD) and limb girdle (LGMD) muscular dystrophy with reduced alpha-dystroglycan (α-DG) at muscle biopsy.Patients typically display a combined phenotype of muscular dystrophy, brain malformations, and generalized epilepsy. However, a wide spectrum of clinical severity has been described ranging from classical CMD presentation to children with mild, yet progressive LGMD with or without intellectual disability...
April 30, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28417336/treatment-of-depression-in-adults-with-fabry-disease
#9
Nadia Ali, Scott Gillespie, Dawn Laney
Fabry disease (FD) is a genetic X-linked, multisystemic, progressive lysosomal storage disorder (LSD). Depression has emerged as a disease complication, with prevalence estimates ranging from 15 to 62%. This is a pilot study examining the effects of psychological counseling for depression in FD on depression, adaptive functioning (AF), quality of life (QOL), and subjective pain experience. Telecounseling was also piloted, as it has beneficial effects in other chronic diseases which make in-person counseling problematic...
April 18, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28411331/glutaric-acidemia-type-1-a-case-of-infantile-stroke
#10
Gül Demet Kaya Ozcora, Songul Gokay, Mehmet Canpolat, Fatih Kardaş, Mustafa Kendirci, Sefer Kumandaş
BACKGROUND: Glutaric acidemia Type 1 (GA-1) is an autosomal recessively inherited metabolic disorder which is associated with GCDH gene mutations which alters the glutaryl-CoA dehydrogenase, an enzyme playing role in the catabolic pathways of the amino acids lysine, hydroxylysine, and tryptophan. Clinical findings are often encephalopathic crises, dystonia, and extrapyramidal symptoms. CASE REPORT: A 9-month-old male infant referred to our department with focal tonic-clonic seizures during rotavirus infection and acute infarcts in MRI...
April 15, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28409479/erratum
#11
Andrew C Edmondson, Jennifer Salant, Lynne A Ierardi-Curto, Can Ficicioglu
No abstract text is available yet for this article.
April 14, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28405942/first-successful-conception-induced-by-a-male-cystinosis-patient
#12
Koenraad R Veys, Kathleen W D'Hauwers, Angelique J C M van Dongen, Mirian C Janssen, Martine T P Besouw, Ellen Goossens, Lambert P van den Heuvel, Alex A M M Wetzels, Elena N Levtchenko
Cystinosis is a rare autosomal recessive lysosomal storage disease characterized by multi-organ cystine accumulation, leading to renal failure and extra-renal organ dysfunction. Azoospermia of unknown origin is the main cause of infertility in all male cystinosis patients. Although spermatogenesis has shown to be intact at the testicular level in some patients, no male cystinosis patient has been reported yet to have successfully induced conception.We present the first successful conception ever reported, induced by a 27-year-old male renal transplant infantile nephropathic cystinosis patient through percutaneous epididymal sperm aspiration (PESA) followed by intracytoplasmatic sperm injection (ICSI)...
April 13, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28391442/systematic-review-and-meta-analysis-of-intelligence-quotient-in-early-treated-individuals-with-classical-galactosemia
#13
Lindsey Welling, Susan E Waisbren, Kevin M Antshel, Hugh-Owen Colhoun, Matthias Gautschi, Stephanie Grünewald, Rebecca Holman, Johanna H van der Lee, Eileen P Treacy, Annet M Bosch
INTRODUCTION: Cognitive impairment is a well-known complication of classical galactosemia (CG). Differences in patient characteristics and test methods have hampered final conclusions regarding the extent of intellectual disabilities in CG. The primary aim of this systematic review was to assess intellectual performance in early-treated (≤4 weeks of life) individuals with confirmed CG (defined by absent or barely detectable GALT enzyme activity and/or the presence of two null or severe missense variations), assessed with comparable test instruments...
April 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28382600/treatment-adherence-and-psychological-wellbeing-in-maternal-carers-of-children-with-phenylketonuria-pku
#14
Emma Medford, Dougal Julian Hare, Katie Carpenter, Stewart Rust, Simon Jones, Anja Wittkowski
Phenylketonuria (PKU), a rare metabolic disorder, causes cognitive impairment unless treated with a strict, protein-restricted diet, but few studies have examined the relationship between treatment compliance and parental wellbeing. In the present study, 46 primary caregivers of children with PKU completed measures of psychological distress, parenting stress (related to caring for a child with an illness), resilience, perceived social support and child dependency. Treatment adherence was assessed using the proportion of blood phenylalanine concentrations within target range in the preceding year...
April 6, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28349448/neonatal-onset-hereditary-coproporphyria-a-new-variant-of-hereditary-coproporphyria
#15
Kosei Hasegawa, Hiroyuki Tanaka, Miho Yamashita, Yousuke Higuchi, Takayuki Miyai, Junko Yoshimoto, Ayumi Okada, Norihiro Suzuki, Keiji Iwatsuki, Hirokazu Tsukahara
Genetic mutation of the coproporphyrinogen oxidase (CPOX) gene causes either hereditary coproporphyria (HCP) or harderoporphyria. HCP, a rare hepatic porphyria, causes acute attacks after puberty and rarely accompanies cutaneous symptoms. In contrast, harderoporphyria is an erythropoietic porphyria that represents photosensitivity and hemolytic anemia from the neonatal period. In patients with harderoporphyria, the p.Lys404Glu mutation is found in the homozygous or compound heterozygous state with another mutation, and a marked increase in harderoporphyrin is observed...
March 28, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28341936/erratum-to-white-matter-microstructure-and-subcortical-gray-matter-structure-volumes-in-aspartylglucosaminuria-a-5-year-follow-up-brain-mri-study-of-an-adolescent-with-aspartylglucosaminuria-and-his-healthy-twin-brother
#16
Anna Tokola, Nina Brandstack, Antti Hakkarainen, Eero Salli, Laura Åberg, Taina Autti
No abstract text is available yet for this article.
March 25, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28324326/the-impact-of-fabry-disease-on-reproductive-fitness
#17
Dawn A Laney, Virginia Clarke, Allison Foley, Eric W Hall, Scott E Gillespie, Myrl Holida, Morgan Simmons, Alexandrea Wadley
Fabry disease (FD) is a pan-ethnic, X-linked, progressive lysosomal storage disorder caused by pathogenic mutations in the GLA gene. Published case reports and abstracts suggest that decreased reproductive fitness may occur in males with FD. In order to understand the impact of FD on reproductive fitness and increase the accuracy of reproductive genetic counseling, this study examines a large, multi-centered population of individuals with FD to determine if males have reduced reproductive fitness. Study data were collected on 376 patients through two, gender-specific surveys distributed across the United States and Canada...
March 22, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28293905/hyperphenylalaninemia-correlated-with-global-decrease-of-antioxidant-genes-expression-in-white-blood-cells-of-adult-patients-with-phenylketonuria
#18
Charlotte Veyrat-Durebex, Christelle Debeissat, Hélène Blasco, Franck Patin, Hélène Henique, Patrick Emond, Catherine Antar, Valérie Gissot, Olivier Herault, François Maillot
BACKGROUND: Several studies have highlighted disturbance of redox homeostasis in patients with phenylketonuria (PKU) which may be associated with neurological disorders observed in patients, especially during adulthood when phenylalanine restrictive diets are not maintained. The aim of this study was to assess the antioxidant profile in a cohort of PKU patients in comparison to the controls and to evaluate its relation to biochemical parameters especially phenylalaninemia. METHODS: We measured RNA expression of 22 antioxidant genes and reactive oxygen species (ROS) levels in white blood cells of 10 PKU patients and 10 age- and gender-matched controls...
March 15, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28283841/clinical-and-molecular-variability-in-patients-with-phka2-variants-and-liver-phosphorylase-b-kinase-deficiency
#19
Deeksha S Bali, Jennifer L Goldstein, Keri Fredrickson, Stephanie Austin, Surekha Pendyal, Catherine Rehder, Priya S Kishnani
Glycogen storage disease (GSD) type IX is a rare disease of variable clinical severity affecting primarily the liver tissue. Individuals with liver phosphorylase b kinase (PhK) deficiency (GSD IX) can present with hepatomegaly with elevated serum transaminases, ketotic hypoglycemia, hyperlipidemia, and poor growth with considerable variation in clinical severity. PhK is a cAMP-dependent protein kinase that phosphorylates the inactive form of glycogen phosphorylase, phosphorylase b, to produce the active form, phosphorylase a...
March 12, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28275973/normal-neurological-development-during-infancy-despite-massive-hyperammonemia-in-early-treated-nags-deficiency
#20
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
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