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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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Methylation is a phase II biotransformation process involving the attachment of a methyl group to a substrate. Enzymes known as methyltransferases orchestrate this reaction.
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Exploring the Arginine Methylome by Nuclear Magnetic Resonance Spectroscopy
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Methylmalonic Acidemia.

Shahid Mahmud1, Syed Awais Ul Hassan Shah1, Salman Ali1

  • 1Department of Paediatrics, Military Hospital, Rawalpindi.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|June 24, 2015
PubMed
Summary
This summary is machine-generated.

Methylmalonic Acidemia (MMA) is a rare metabolic disorder causing toxic buildup. Early diagnosis and management, including diet, are crucial for affected infants and children.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Methylmalonic Acidemia (MMA) is an inborn error of metabolism.
  • It leads to the accumulation of methylmalonic acid in the blood and urine.
  • Symptoms range from mild to life-threatening, often presenting in early infancy with developmental delays and failure to thrive.

Purpose of the Study:

  • To report the presentation and management of a 2-year-old boy with MMA.
  • To highlight the challenges in achieving developmental milestones in a case from Pakistan.

Main Methods:

  • Clinical case presentation.
  • Review of diagnostic and management protocols for MMA.

Main Results:

  • The patient presented with a failure to achieve age-expected milestones.
  • Standard treatment involves rehydration, promoting anabolism, and long-term dietary management (low protein diet, avoiding fasting).

Conclusions:

  • Prognosis is dependent on MMA type and management effectiveness, especially during metabolic decompensation.
  • This case adds to the limited reported instances of MMA in Pakistan, emphasizing the need for awareness and timely intervention.