Posts Categorized: Part 07: CARBOHYDRATES



Antisense therapy in Galactosemia

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Mutational analysis of patients with galactosemia Portugal revealed the intronic variation c.820+13A>G as the second most prevalent mutation. Coelho et al. functionally characterized this intronic variation and studied its pathogenic mechanism. Minigene splicing assays in two distinct cell lines and patients’ transcript analyses showed that the mutation activates a cryptic donor splice site, inducing an […]



Dietary management of older patients with classical galactosemia

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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

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  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 […]



Transaldolase deficiency

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Mol Genet Metab. 2008 Jun;94(2):255-8. Epub 2008 Mar 10. Transaldolase deficiency in a two-year-old boy with cirrhosis. Wamelink MM, Struys EA, Salomons GS, Fowler D, Jakobs C, Clayton PT. In this brief communication, the authors describe a new patient with transaldolase deficiency, with hematological, renal and hepatic manifestations. They also review previously reported cases of […]



Cornstarch intervals

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I was surprised to see the post stating that older GSD type 1 patients can last 7 hours with a single dose of bedtime cornstarch. Our experience, as well as that of many other families, is that metabolic control is compromised if doses are not delivered Q 4 hours. This has been confirmed by inpatient […]



New IEM: Dolichol Phosphate Synthesis defect

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Four patients from 2 different families were identified with a new inborn error of metabolism: a defect in the biosynthesis of Dolichol Phosphate. Frequent features include ichtyosis, hypotonia and dilated cardiomyopathy. Transferin isoelectri buy viagra online in canada c focusing was abnormal. For more details, see the article and website: A Defect in Dolichol Phosphate […]



Gene therapy for GSD-1a

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Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia. Koeberl DD, Sun BD, Damodaran TV, Brown T, Millington DS, Benjamin DK, Bird A, Schneider A, Hillman S, Jackson M, Beaty RM, Chen YT. Gene Ther. 2006 May 4 This group describes the IV administration of a pseudotyped AAV8 vector […]