Glycogen Storage Diseases

doi:10.1081/e-emgp-120025636

Cited by 1 publication

(1 citation statement)

References 23 publications

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“…[15] The role of glycogen in the liver is to provide glucose to the blood for various organs. [16] There are two subtypes of GSD type I (von Gierke's disease), namely GSD Ia and GSD Ib, [17][18][19][20] which are caused by deficient glucose-6-phosphatase activity and mutation in the gene encoding the microsomal glucose-6-phosphate transporter, [21] respectively. The diagnosis of GSD I is based on the following: [22] clinical presentation; abnormal blood plasma concentrations of glucose, lactate, uric acid, triglycerides, and lipids; molecular genetic testing; [20,[23][24][25][26] and liver biopsy to measure enzyme activity.…”

Section: Gsdsmentioning

confidence: 99%

Medical Management of Chronic Liver Diseases in Children (Part I)

El-Shabrawi

Kamal

2011

Pediatric Drugs

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The management of children with chronic liver disease (CLD) mandates a multidisciplinary approach. CLDs can be classified into 'potentially' curable, treatable non-curable, and end-stage diseases. Goals pertaining to the management of CLDs can be divided into prevention or minimization of progressive liver damage in curable CLD by treating the primary cause; prevention or control of complications in treatable CLD; and prediction of the outcome in end-stage CLD in order to deliver definitive therapy by surgical procedures, including liver transplantation. Curative, specific therapies aimed at the primary causes of CLDs are, if possible, best considered by a pediatric hepatologist. Medical management of CLDs in children will be reviewed in two parts, with part I (this article) specifically focusing on 'potentially' curable CLDs. Dietary modification is the cornerstone of management for galactosemia, hereditary fructose intolerance, and certain glycogen storage diseases, as well as non-alcoholic steatohepatitis. It is also essential in tyrosinemia, in addition to nitisinone [2-(nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione] therapy, as well as in Wilson disease along with copper-chelating agents such as D-penicillamine, triethylenetetramine dihydrochloride, and ammonium tetrathiomolybdate. Zinc and antioxidants are adjuvant drugs in Wilson disease. New advances in chronic viral hepatitis have been made with the advent of oral antivirals. In children, currently available drugs for the treatment of chronic hepatitis B virus infection are standard interferon (IFN)-α-2, pegylated IFN-α-2 (PG-IFN), and lamivudine. In adults, adefovir and entecavir have also been licensed, whereas telbivudine, emtricitabine, tenofovir disoproxil fumarate, clevudine, and thymosin α-1 are currently undergoing clinical testing. For chronic hepatitis C virus infection, the most accepted treatment is PG-IFN plus ribavirin. Corticosteroids, with or without azathioprine, remain the basic strategy for inducing remission in autoimmune hepatitis. Ciclosporin (cyclosporine) and other immune suppressants may be used for patients who do not achieve remission, or who have significant side effects, with corticosteroid/azathioprine therapy. The above therapies can prevent, or at least minimize, progression of liver damage, particularly if started early, leading to an almost normal quality of life in affected children.

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