Metabolic Liver Disease in the Infant and Older Child

Chakrapani, Anupam; Green, Anne

doi:10.1002/9780470987049.ch12

Cited by 4 publications

(4 citation statements)

References 174 publications

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“…Accumulation of fructose‐1‐phosphate can cause hypoglycemia due to the inhibition of glycogen phosphorylase and the inability to condense glyceraldehyde‐3‐phosphate and dihydroxyacetone phosphate. In addition, excess amounts of fructose‐1‐phosphate can lead to ATP depletion, which is thought to lead to impaired protein synthesis and, ultimately, liver and renal dysfunction 102…”

Section: Carbohydrate Metabolismmentioning

confidence: 99%

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Metabolic liver disease in children

Hansen

Horslen

2008

Liver Transpl

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Section: Carbohydrate Metabolismmentioning

confidence: 99%

“…Patients who remain undiagnosed can develop failure to thrive, liver disease, and renal tubular dysfunction. Beyond infancy, these patients develop a dramatic aversion to sweet foods and instinctively self‐impose a fructose‐free diet 102. Lack of dental caries is characteristic of patients with HFI 103.…”

Section: Carbohydrate Metabolismmentioning

confidence: 99%

Metabolic liver disease in children

Hansen

Horslen

2008

Liver Transpl

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“…Presently, the rare cases of RS are related to a wide variety of metabolic diseases presenting with a similar clinical and pathological picture. Among these, disorders of oxidative phosphorylation, urea cycle defects, defects in fatty acid oxidation metabolism, systemic carnitine deficiency and acyl-CoA dehydrogenase deficiency, should be noted [31] .…”

Section: Hepatotoxicity Of Specific Drugsmentioning

confidence: 99%

Hepatotoxicity of anti-inflammatory and analgesic drugs: ultrastructural aspects1

Manov

Motanis

Frumin

et al. 2006

Acta Pharmacologica Sinica

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With the increasing incidence of drug-induced liver disease, attempts are being made to better understand the mechanisms behind these frequently life-endangering reactions. Analgesics and anti-inflammatory drugs are a major group exhibiting hepatotoxicity. We review research relating to these reactions, focusing on ultrastructural findings, which may contribute to the comprehension and possible avoidance of drug-induced liver disease. We also present some original observations on clinical material and cultured cells exposed to acetaminophen alone or in combination with the antioxidant N-acetylcysteine or the P-glycoprotein inhibitor verapamil.

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“…Niemann-Pick disease type C is a rare autosomal recessive disorder with an estimated incidence of 1:150,000 live births [ 12 ]. In the UK, the clinical heterogeneity of the condition has been confirmed in a recent large review of cases, with figures suggesting approximately a third of patients each present in the newborn, juvenile and adolescent/adult periods [ 5 ].…”

Section: Discussionmentioning

confidence: 99%

A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C

Modin

Gissen

et al. 2021

Children

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Background: To report on clinical presentation and outcomes of children who underwent liver transplantation (LTx) and were subsequently diagnosed to have Niemann-Pick type C (NPC). Methods: Retrospective, descriptive, multi-centre review of children diagnosed with NPC who underwent LTx (2003–2018). Diagnosis was made by filipin skin test or genetic testing. Results: Nine children were identified (six centres). Neonatal acute liver failure was the most common indication for LTx (seven children). Median age at first presentation: 7 days (range: 0–37). The most prevalent presenting symptoms: jaundice (8/9), hepatosplenomegaly (8/9) and ascites (6/9). 8/9 children had a LTx before the diagnosis of NPC. Genetic testing revealed mutations in NPC1 correlating with a severe biochemical phenotype in 5 patients. All 9 children survived beyond early infancy. Seven children are still alive (median follow-up time of 9 (range: 6–13) years). Neurological symptoms developed in 4/7 (57%) patients at median 9 (range: 5–13) years following LTx. Conclusion: Early diagnosis of NPC continues to be a challenge and a definitive diagnosis is often made only after LTx. Neurological disease is not prevented in the majority of patients. Genotype does not appear to predict neurological outcome after LTx. LTx still remains controversial in NPC.

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Metabolic Liver Disease in the Infant and Older Child

Cited by 4 publications

References 174 publications

Metabolic liver disease in children

Metabolic liver disease in children

Hepatotoxicity of anti-inflammatory and analgesic drugs: ultrastructural aspects1

A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C

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