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Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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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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[Perinatal lethal Gaucher disease. Case report].

I N Voloshchuk1,2, I V Barinova1, E N Andreeva1

  • 1Moscow Regional Research Institute of Obstetrics and Gynecology of the Ministry of Health of the Moscow Region, Moscow Region, Russia.

Arkhiv Patologii
|July 19, 2021
PubMed
Summary
This summary is machine-generated.

This study details a fatal case of Gaucher disease in a fetus, identified by specific physical signs and confirmed through genetic and biochemical tests. The findings highlight early developmental detection of Gaucher disease signs.

Keywords:
Gaucher diseasenon-immune hydropspathological anatomyperinatal form

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Area of Science:

  • Perinatal medicine
  • Medical genetics
  • Biochemistry

Background:

  • Gaucher disease is a lysosomal storage disorder caused by mutations in the GBA gene.
  • Perinatal lethal forms can present with severe fetal abnormalities.

Observation:

  • A 29-week-old fetus presented with non-immune hydrops, facial dysmorphia, hepatosplenomegaly, and cerebellar/pontine hypoplasia.
  • Gaucher cells were identified in multiple fetal tissues, but not the placenta, which showed significant swelling.

Findings:

  • Biochemical analysis revealed deficient glucocerebrosidase activity and elevated hexanoylsphingosine.
  • Molecular genetic testing confirmed two GBA gene mutations, diagnosing Gaucher disease.
  • Histologic signs of Gaucher disease were present early in fetal development.

Implications:

  • This case underscores the importance of considering Gaucher disease in fetuses with non-immune hydrops and dysmorphic features.
  • Early detection of Gaucher disease in utero is possible through a combination of clinical, biochemical, and genetic evaluation.
  • Understanding early histologic manifestations aids in diagnosing and managing Gaucher disease during development.