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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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Lysosomes are membrane-enclosed spherical sacs derived from the Golgi apparatus. The most important function of the lysosome is degrading macromolecules and biological polymers that are released during membrane trafficking events such as the secretory, endocytic, autophagic, and phagocytic pathways. The degradation is carried out by several hydrolytic enzymes active in an acidic environment of the lysosomal lumen. These acid hydrolases are involved in cellular processes such as cell signaling,...
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Lysosomal storage diseases.

Alessandro P Burlina1, Renzo Manara2, Daniela Gueraldi3

  • 1Neurology Unit, San Bassiano Hospital, Bassano del Grappa, Italy.

Handbook of Clinical Neurology
|September 25, 2024
PubMed
Summary
This summary is machine-generated.

Lysosomal storage disorders (LSDs) are inherited metabolic diseases causing progressive cell damage, often impacting the brain. Treatments are limited, with poor outcomes for most patients.

Keywords:
Brain magnetic resonance imaging (MRI)Enzyme replacement therapyLeukodystrophiesLeukoencephalopathiesLysosomal diseasesNewborn screeningWhite matter

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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Lysosomal storage disorders (LSDs) stem from inherited metabolic defects.
  • These disorders lead to macromolecule accumulation, inflammation, and cell death.
  • Neurologic damage, often degenerative, is a hallmark of LSDs.

Purpose of the Study:

  • To review the spectrum of neurological involvement in LSDs.
  • To classify LSDs based on white matter (WM) involvement patterns.
  • To summarize clinical manifestations, progression, and treatment limitations.

Main Methods:

  • Literature review of LSDs with a focus on neurological and WM pathology.
  • Classification of LSDs into primary (leukodystrophies) and secondary (leukoencephalopathies) WM involvement.
  • Synthesis of clinical data including onset, symptoms, and outcomes.

Main Results:

  • LSDs exhibit diverse neurological symptoms, including developmental delays, seizures, and motor impairments.
  • White matter involvement is categorized as primary (leukodystrophies) or secondary (leukoencephalopathies).
  • While some LSDs present in infancy, others manifest in juvenile or adult forms with neuropsychiatric symptoms.

Conclusions:

  • LSDs represent a significant group of inherited neurological diseases with poor prognoses.
  • Effective treatments are scarce, highlighting the need for further therapeutic development.
  • Understanding WM involvement aids in classifying and managing these complex disorders.