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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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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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Mitochondrial precursors are partially unfolded or loosely folded polypeptide chains. Newly synthesized precursors are inhibited from spontaneously folding into their native conformation by the cytosolic chaperones, heat shock proteins 70 (Hsp70), and mitochondrial import stimulation factors (MSFs). Precursors bound to MSFs are guided to the TOM70-TOM37 receptors, while precursors bound to Hsp70  chaperones are targetted to TOM20-TOM22 receptor complexes.
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Primary Mitochondrial Disorders in the Neonate.

Rodrigo Tzovenos Starosta1, Marwan Shinawi1

  • 1Washington University School of Medicine, Saint Louis, MO.

Neoreviews
|November 30, 2022
PubMed
Summary

Primary mitochondrial disorders (PMDs) are genetic conditions affecting mitochondria, leading to organ dysfunction. Diagnosis is shifting towards molecular testing, improving outcomes for affected neonates.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Primary mitochondrial disorders (PMDs) are a diverse group of genetic conditions impacting mitochondrial function.
  • These disorders disrupt cellular energy, metabolism, and increase oxidative stress, leading to multi-organ dysfunction.
  • PMDs stem from pathogenic variants in nuclear or mitochondrial genes, exhibiting varied inheritance patterns.

Approach:

  • This review examines diagnostic methods for PMDs, focusing on prenatal and neonatal presentations.
  • It highlights the diagnostic paradigm shift driven by non-targeted molecular testing, reducing reliance on invasive procedures.
  • The review discusses common PMDs in neonates, encompassing both general and syndromic forms.

Key Points:

  • Mitochondrial dysfunction underlies PMDs, affecting cellular energy and metabolism.

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  • Genetic variations in nuclear and mitochondrial DNA cause these disorders.
  • Neonatal onset is associated with significant morbidity and mortality.

    • Conclusions:

    • The advent of molecular diagnostics has transformed PMD diagnosis, making it less invasive.
    • Understanding neonatal presentations is crucial for early identification and management.
    • Emerging personalized therapies promise improved treatment for PMDs.