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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Updated: Sep 24, 2025

Detecting Glycogen in Peripheral Blood Mononuclear Cells with Periodic Acid Schiff Staining
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Hepatic Glycogenosis: An Underdiagnosed Entity?

Sofia Garcês Soares1, Renato Medas2, Filipe Conceição3

  • 1Internal Medicine Department, Centro Hospitalar Tâmega E Sousa, Penafiel, PRT.

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|May 9, 2022
PubMed
Summary

Hepatic glycogenosis (HG) in type 1 diabetes mellitus (T1DM) is often misdiagnosed. Early recognition and strict metabolic control are crucial for managing this benign liver condition.

Keywords:
diabetic keto acidosishepatic glycogenosisliver biopsynon-alcoholic fatty liver diseasetype 1 diabetes mellitus (t1dm)

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Area of Science:

  • Hepatology
  • Endocrinology
  • Diabetology

Background:

  • Hepatic glycogenosis (HG) is a rare complication of poorly controlled type 1 diabetes mellitus (T1DM).
  • HG is frequently misdiagnosed as non-alcoholic fatty liver disease (NAFLD), despite distinct prognoses.
  • Underrecognition of HG persists, even among gastroenterologists.

Observation:

  • A case of an 18-year-old female with T1DM and diabetic ketoacidosis (DKA) presented with elevated aminotransferases and hyperlactacidemia.
  • Imaging revealed hepatomegaly and a bright liver parenchyma.
  • Extensive workup excluded other liver diseases, leading to a liver biopsy confirming HG.

Findings:

  • The patient showed persistent liver enzyme elevation despite DKA treatment.
  • Liver biopsy confirmed hepatic glycogenosis.
  • Strict metabolic control led to biochemical normalization within 6 months.

Implications:

  • Distinguishing HG from NAFLD is critical due to differing prognoses; NAFLD can progress to cirrhosis and hepatocarcinoma.
  • HG is a benign condition with an excellent prognosis and reversibility upon adequate metabolic control.
  • Liver biopsy is the gold standard for diagnosing HG and differentiating it from NAFLD.