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Inborn Errors of Metabolism01:20

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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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Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes
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Methylmalonic acidemia: Neurodevelopment and neuroimaging.

Tao Chen1, Yian Gao2, Shengdong Zhang3

  • 1Department of Clinical Laboratory, Jinan Maternity and Child Care Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, China.

Frontiers in Neuroscience
|February 13, 2023
PubMed
Summary

Methylmalonic acidemia (MMA) is a genetic metabolic disorder affecting infants. Early diagnosis via neuroimaging is crucial for understanding its impact on brain development and neurological function.

Keywords:
diagnosismethylmalonic acidemianervous system injuryneurodevelopmental characteristicsneuroimaging

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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Methylmalonic acidemia (MMA) is a serious genetic disorder of organic acid metabolism.
  • It significantly impacts infant survival and quality of life, necessitating early detection.

Purpose of the Study:

  • To review the etiology, pathogenesis, and nervous system development in MMA.
  • To highlight the critical role of neuroimaging in MMA diagnosis and prognosis.

Main Methods:

  • Review of existing literature on MMA.
  • Analysis of diagnostic methods including clinical symptoms, newborn screening, biochemical tests, gene sequencing, and neuroimaging.
  • Focus on neuroimaging features associated with MMA.

Main Results:

  • MMA results from abnormal organic acid metabolism, leading to metabolite accumulation.
  • This accumulation causes brain damage, manifesting as intellectual disability and neurological dysfunction.
  • Neuroimaging is vital for diagnosing MMA and predicting patient outcomes.

Conclusions:

  • Early detection and diagnosis of MMA are essential for improving outcomes.
  • Neuroimaging plays a key role in understanding MMA's neurological impact and guiding treatment.