Posts By: Alina Levtova

10-year follow-up study of ERT for MPS VI patients

Posted by & filed under Part 16: LYSOSOMAL DISORDERS.

Giugliani R. Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)-10-year follow-up of patients who previously participated in an MPS VI survey study. Am J Med Genet A. 2014 Aug;164(8):1953-64.   Giugliani et el evaluate the long-term effects of enzyme replacement therapy in Maroteaux-Lamy syndrome (MPS VI) by conducting a resurvey of […]

New monogenic early-onset polyautoimmunity syndrome caused by activating mutations in STAT3

Posted by & filed under Exome sequencing, Part 20: IMMUNE AND DEFENSE SYSTEMS.

Flanagan SE et al. Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.Nat Genet. 2014 Aug;46(8):812-4. Monogenic autoimmunity syndromes are a rare cause of very early-onset multiple autoimmune manifestations. Flanagan et al report a new monogenic early-onset polyautoimmunity syndrome caused by activating STAT3 mutations. They initially used exome sequencing to identify an activating de novo […]

Dietary management of older patients with classical galactosemia

Posted by & filed under Part 07: CARBOHYDRATES.

Van Calcar SC. A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia. Mol Genet Metab. 2014 Jul;112(3):191-197.   Although the need for galactose restriction in infants with classic galactosemia is unquestioned, the value of very severe galactose restriction for older individuals is controversial. Van Calcar et al review current practices […]

Glycogen storage disease types 0, VI, and IX in the differential diagnosis of idiopathic ketotic hypoglycemia of childhood

Posted by & filed under Part 07: CARBOHYDRATES.

  Brown LM et al. Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children. J Inherit Metab Dis. 2014 Jul 3. [Epub ahead of print] In this study, Brown et al screened a population of children with seemingly idiopathic ketotic hypoglycemia for the “milder” glycogen storage disorders type 0, VI, and […]

Oral treatment for Leber congenital amaurosis

Posted by & filed under Part 29: EYE.

Koenekoop RK et al. Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial. Lancet. 2014 Jul 11. [Epub ahead of print] Perusek L, Maeda T. Vitamin A derivatives as treatment options for retinal degenerative diseases. Nutrients. 2013 Jul 12;5(7):2646-66.   Koenekoop et […]

Sodium pyruvate for the treatment of disorders of oxidative phosphorylation

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION.

Fujii T, Nozaki F, Saito K, Hayashi A, Nishigaki Y, Murayama K, Tanaka M, Koga Y, Hiejima I, Kumada T. Efficacy of pyruvate therapy in patients with mitochondrial disease: a semi-quantitative clinical evaluation study. Mol Genet Metab. 2014 Jun;112(2):133-8.  Tanaka M, Nishigaki Y, Fuku N, Ibi T, Sahashi K, Koga Y. Therapeutic potential of pyruvate therapy for mitochondrial diseases. Mitochondrion. 2007 Dec;7(6):399-401.   In 2007, Tanaka et al formulated the […]

Interplay between nature and nurture in reading achievement

Posted by & filed under Part 03: GENERAL THEMES.

Plomin R, Shakeshaft NG, McMillan A, Trzaskowski M. Nature, Nurture, and Expertise. Intelligence. 2014 Jul;45:46-59. In a cross-sectional twin study, Plomin et al explore the genetic and environmental underpinnings of reading expertise, defined as performance above the 95th percentile on a comprehensive reading test at age 12. They find that more than half of the difference in performance between […]

Sapropterin dihydrochloride in maternal phenylketonuria

Posted by & filed under Part 08: AMINO ACIDS, Treatment.

Feillet F et al. Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases. J Inherit Metab Dis. 2014 May 1. [Epub ahead of print] Feillet et al describe the use of sapropterin dihydrochloride during pregnancy in eight cases of maternal phenylketonuria. Seven of eight patients (who were known to be responsive […]

Pyridoxine responsiveness in PNPO deficiency

Posted by & filed under Part 17: VITAMINS, Part 28: NEUROGENETICS.

Plecko B, Paul K, Mills P, et al. (2014) Pyridoxine responsiveness in novel mutations of the PNPO gene. Neurology 82(16): 1425-1433. Pyridoxal 5’-phosphate dependent epilepsy due to pyridox(am)ine 5’-phosphate oxidase deficiency is a newly discovered treatable cause of neonatal epileptic encephalopathy, clinically resembling pyridoxine-dependent epilepsy due to antiquitin deficiency  (Mills, Surtees et al. 2005). PNPO […]

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function.

Posted by & filed under Part 28: NEUROGENETICS.

Gomez-Herreros et al. TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function. Nat Genet. 2014 May;46(5):516-21. doi: 10.1038/ng.2929. Epub 2014 Mar 23. Gomez-Herreros et al identify homozygous mutations in TDP2 as a new cause of intellectual disability, by performing homozygosity mapping and exome sequencing in a consanguineous Irish family with […]