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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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Propionic and Methylmalonic Acidemias: Initial Clinical and Biochemical Presentation.

Amira Mobarak1, Heba Dawoud1, Wesam A Mokhtar2

  • 1Medical Biochemical Diseases Division, Pediatrics Department, Faculty of Medicine, Tanta University, Egypt.

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Summary

Propionic acidemia (PA) and methylmalonic acidemia (MMA) often present with nonspecific symptoms like vomiting. While blood gas, lactate, and ammonia levels can predict metabolic decompensation, elevated glycine may not indicate instability.

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Area of Science:

  • Biochemistry
  • Metabolic Disorders
  • Clinical Medicine

Background:

  • Propionic acidemia (PA) and methylmalonic acidemia (MMA) are inborn errors of metabolism.
  • These conditions frequently present with nonspecific symptoms, complicating early diagnosis and treatment.
  • Understanding initial clinical and biochemical features is crucial for timely intervention.

Purpose of the Study:

  • To characterize the initial clinical and biochemical presentations of patients with PA and MMA.
  • To identify potential markers for metabolic decompensation in these disorders.

Main Methods:

  • A retrospective review of 20 patients (10 with PA, 10 with MMA) was conducted.
  • Clinical data including symptoms and demographic information were collected.
  • Biochemical parameters such as ammonia, lactate, pH, bicarbonate, C3:C2, C3, and glycine levels were analyzed.

Main Results:

  • Vomiting (85%) and refusal of feeding (70%) were the most common symptoms.
  • Elevated ammonia levels showed negative correlations with pH and bicarbonate, and positive correlations with lactate and anion gap.
  • Higher glycine levels were observed in PA patients and correlated positively with pH and bicarbonate, but not with ammonia or lactate.

Conclusions:

  • The clinical presentation of PA and MMA is nonspecific, but vomiting and feeding refusal may signal decompensation.
  • Blood gas, lactate, and ammonia levels are valuable indicators of metabolic decompensation.
  • Elevated glycine levels may not necessarily correlate with metabolic instability in these conditions.