Clinical spectrum of propionic acidaemia

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Propionic acidemia (PA) is an inherited metabolic disorder.
• Early identification of clinical and laboratory features is essential for timely management.
• Understanding PA's presentation aids in distinguishing it from other neonatal conditions.

Purpose of the Study:

• To evaluate the clinical features, physical findings, diagnosis, and laboratory parameters in patients with propionic acidemia.
• To analyze the spectrum of symptoms and metabolic derangements associated with PA.
• To identify key indicators for early diagnosis and potential intervention strategies.

Main Methods:

• Retrospective review of medical records for diagnosed cases of propionic acidemia.
• Analysis of 133 admissions across 26 patients.
• Evaluation of clinical manifestations, physical findings, and laboratory parameters during admissions.

Main Results:

• 85% of patients showed clinical manifestations within the first week of life.
• Common clinical features included lethargy, fever, vomiting, hypotonia, and respiratory symptoms (51-92% of admissions).
• Metabolic crises, acidosis, hyperammonemia, hypoalbuminemia, and hypocalcemia were frequent (30-96% of admissions); brain edema and atrophy were noted in 17% and 25% of admissions, respectively.

Conclusions:

• Propionic acidemia typically presents with a broad range of clinical and laboratory abnormalities in the neonatal period.
• The condition is linked to significant complications impacting patient quality of life.
• Early diagnosis and prompt intervention are critical for potentially preventing severe outcomes.