Alpers-huttenlocher syndrome first presented with hepatic failure: Can liver transplantation be considered as treatment option?

Sowon Park, hoonchul kang, Jin Sung Lee, Young Nyun Park, Seung Kim, Hong Koh

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Mitochondria play essential role in eukaryotic cells including in the oxidative phosphorylation and generation of adenosine triphosphate via the electron-transport chain. Therefore, defects in mitochondrial DNA (mtDNA) can result in mitochondrial dysfunction which leads to various mitochondrial disorders that may present with various neurologic and non-neurologic manifestations. Mutations in the nuclear gene polymerase gamma (POLG) are associated with mtDNA depletions, and Alpers-Huttenlocher syndrome is one of the most severe manifestations of POLG mutation characterized by the clinical triad of intractable seizures, psychomotor regression, and liver failure. The hepatic manifestation usually occurs late in the disease's course, but in some references, hepatitis was reportedly the first manifestation. Liver transplantation was considered contraindicated in Alpers-Huttenlocher syndrome due to its poor prognosis. We acknowledged a patient with the first manifestation of the disease being hepatic failure who eventually underwent liver transplantation, and whose neurological outcome improved after cocktail therapy.

Original languageEnglish
Pages (from-to)259-262
Number of pages4
JournalPediatric Gastroenterology, Hepatology and Nutrition
Volume20
Issue number4
DOIs
Publication statusPublished - 2017 Dec 22

Fingerprint

Diffuse Cerebral Sclerosis of Schilder
Liver Failure
Mitochondrial DNA
Liver Transplantation
Mitochondrial Diseases
Mutation
Oxidative Phosphorylation
Eukaryotic Cells
Electron Transport
Nervous System
Hepatitis
Mitochondria
Seizures
Adenosine Triphosphate
Liver
Therapeutics
Genes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Hepatology
  • Gastroenterology

Cite this

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title = "Alpers-huttenlocher syndrome first presented with hepatic failure: Can liver transplantation be considered as treatment option?",
abstract = "Mitochondria play essential role in eukaryotic cells including in the oxidative phosphorylation and generation of adenosine triphosphate via the electron-transport chain. Therefore, defects in mitochondrial DNA (mtDNA) can result in mitochondrial dysfunction which leads to various mitochondrial disorders that may present with various neurologic and non-neurologic manifestations. Mutations in the nuclear gene polymerase gamma (POLG) are associated with mtDNA depletions, and Alpers-Huttenlocher syndrome is one of the most severe manifestations of POLG mutation characterized by the clinical triad of intractable seizures, psychomotor regression, and liver failure. The hepatic manifestation usually occurs late in the disease's course, but in some references, hepatitis was reportedly the first manifestation. Liver transplantation was considered contraindicated in Alpers-Huttenlocher syndrome due to its poor prognosis. We acknowledged a patient with the first manifestation of the disease being hepatic failure who eventually underwent liver transplantation, and whose neurological outcome improved after cocktail therapy.",
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Alpers-huttenlocher syndrome first presented with hepatic failure : Can liver transplantation be considered as treatment option? / Park, Sowon; kang, hoonchul; Lee, Jin Sung; Park, Young Nyun; Kim, Seung; Koh, Hong.

In: Pediatric Gastroenterology, Hepatology and Nutrition, Vol. 20, No. 4, 22.12.2017, p. 259-262.

Research output: Contribution to journalArticle

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AU - Park, Sowon

AU - kang, hoonchul

AU - Lee, Jin Sung

AU - Park, Young Nyun

AU - Kim, Seung

AU - Koh, Hong

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