Inborn Errors of Metabolism that Lead to Permanent Liver Injury

Ghishan, Fayez K.

doi:10.1016/b978-1-4377-0881-3.00066-8

Cited by 2 publications

(4 citation statements)

References 466 publications

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“…A more feasible approach employing frequent daytime feedings of a high-starch diet (which provides a 'timed-release' source of glucose), in combination with a continuous nocturnal nutrient infusion, has been devised and has proved effective in maintaining blood glucose concentrations within a range that prevents stimulation of excess glycogenolysis and glycolysis. [29] Chen et al [30] modified the dietary treatment regimen for GSD I by incorporating raw cornstarch, [31,32] which undergoes low degradation to glucose by a-amylase, into the diet. Recommendations for cornstarch dosing are 1.6 g kg every 4 hours for infants, 1.7-2.5 g kg every 6 hours for young children through puberty, and 1.7-2.5 g kg administered before bedtime for adults.…”

Section: Gsdsmentioning

confidence: 99%

“…As growth ceases and glucose requirements concomitantly decrease, many of these patients can maintain adequate metabolic control on the cornstarch regimen. [15,29] Intake of sucrose and fructose should be restricted for infants and older children. [22,23] Sugar, fruits, fruit juice, high-fructose corn syrup, sorbitol, cane juice, and other foods that cannot be broken down into glucose should be avoided.…”

Section: Gsdsmentioning

confidence: 99%

“…Consequently, optimal growth rates may not be achieved. [15,29] To achieve maximum growth potential, many children may require an intensive feeding regimen consisting of high-starch meals administered every 2-3 hours during waking hours, coupled with a continuous nocturnal infusion of a nutritionally complete, high complex carbohydrate, low-fat (<5% of calories) formula. As growth ceases and glucose requirements concomitantly decrease, many of these patients can maintain adequate metabolic control on the cornstarch regimen.…”

Section: Gsdsmentioning

confidence: 99%

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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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Section: Gsdsmentioning

confidence: 99%

Section: Gsdsmentioning

confidence: 99%

Section: Gsdsmentioning

confidence: 99%

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

El-Shabrawi

Kamal

2011

Pediatric Drugs

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“…Mutations in LIPA, the gene that encodes LAL, result in either Wolman disease (WD), or cholesteryl ester storage disease (CESD). Whereas WD is a severe, early onset illness caused by complete loss of LAL activity, CESD is a milder, later-onset disease resulting from partial LAL deficiency [20–22]. …”

Section: Introductionmentioning

confidence: 99%

Quantitation of the rates of hepatic and intestinal cholesterol synthesis in lysosomal acid lipase-deficient mice before and during treatment with ezetimibe

Chuang

Lopez

Turley

2017

Biochemical Pharmacology

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Esterified cholesterol (EC) and triglycerides, contained within lipoproteins taken up by cells, are hydrolysed by lysosomal acid lipase (LAL) in the late endosomal/lysosomal (E/L) compartment. The resulting unesterified cholesterol (UC) is transported via Niemann-Pick type C2 and C1 into the cytosolic compartment where it enters a putative pool of metabolically active cholesterol that is utilized in accordance with cellular needs. Loss-of-function mutations in LIPA, the gene encoding LAL, result in dramatic increases in tissue concentrations of EC, a hallmark feature of Wolman Disease and Cholesteryl Ester Storage Disease (CESD). The lysosomal sequestration of EC causes cells to respond to a perceived deficit of sterol by increasing their rate of cholesterol synthesis, particularly in the liver. A similar compensatory response occurs with treatments that disrupt the enterohepatic movement of cholesterol or bile acids. Here we measured rates of cholesterol synthesis in vivo in the liver and small intestine of a mouse model for CESD given the cholesterol absorption inhibitor ezetimibe from weaning until early adulthood. Consistent with previous findings, this treatment significantly reduced the amount of EC sequestered in the liver (from 132.43 ± 7.35 to 70.07 ± 6.04 mg/organ) and small intestine (from 2.78 ± 0.21 to 1.34 ± 0.09 mg/organ) in the LAL-deficient mice even though their rates of hepatic and intestinal cholesterol synthesis were either comparable to, or exceeded those in matching untreated Lal−/− mice. These data reveal the role of intestinal cholesterol absorption in driving the expansion of tissue EC content and disease progression in LAL deficiency.

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Inborn Errors of Metabolism that Lead to Permanent Liver Injury

Cited by 2 publications

References 466 publications

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

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

Quantitation of the rates of hepatic and intestinal cholesterol synthesis in lysosomal acid lipase-deficient mice before and during treatment with ezetimibe

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