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Related Experiment Video

Updated: Dec 12, 2025

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Liver failure and x-linked immunodeficiency type 47.

Alexis J Gumm1, Donald G Basel2, Pooja Thakrar3

  • 1Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.

Pediatric Transplantation
|August 14, 2020
PubMed
Summary
This summary is machine-generated.

ATP6AP1 gene defects cause rare CDG disorders leading to liver failure. This study details two brothers with a new ATP6AP1 variant, highlighting the importance of genetic testing for infant liver failure.

Keywords:
ATP6AP1c.932/p.Leu311Glnglycosylationliver failurex-linked immunodeficiency

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Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Congenital disorders of glycosylation (CDG) are a group of rare genetic diseases.
  • ATP6AP1-related disorders are a rare subtype of CDG, often presenting with multi-organ system involvement.
  • Hepatopathy is a common feature in ATP6AP1-related disorders.

Observation:

  • Two brothers presented with neonatal hyperbilirubinemia progressing to liver failure.
  • Case 1 underwent a successful liver transplant at 2 years of age.
  • Case 2 passed away awaiting a liver transplant.

Findings:

  • A novel variant in the ATP6AP1 gene (c.932/p.Leu311Gln) was identified in both patients.
  • The identified variant, initially of unknown significance, proved diagnostic given the clinical phenotype.
  • This represents the first reported successful liver transplant in a patient with ATP6AP1-related disorder.

Implications:

  • ATP6AP1-related disorder (X-linked immunodeficiency type 47) should be considered in the differential diagnosis of infant liver failure.
  • Early genetic testing for ATP6AP1 variants is crucial for timely diagnosis and management.
  • Successful liver transplantation is a viable option for select patients with severe ATP6AP1-related liver disease.