Infantile form of muscle phosphofructokinase deficiency in a premature neonate

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Muscle phosphofructokinase (PFK) deficiency is a rare autosomal recessive metabolic disorder.
• It affects glycolysis, impacting muscle energy production.

Observation:

• A preterm infant presented with infantile PFK deficiency at 1 month corrected age.
• Symptoms included floppy infant syndrome, joint contractures, cleft palate, and pelvicalyceal system duplication.
• The infant succumbed to respiratory failure at 6 months corrected age.

Findings:

• Review of infantile cases reveals common presentations: congenital hypotonia (78.6%) and arthrogryposis (64.3%).
• Other systemic involvements include encephalopathy (35.7%) and cardiomyopathy (21.4%).
• The infantile form of PFK deficiency has a notably low survival rate.

Implications:

• Early diagnosis and recognition of multi-systemic involvement are critical for improved clinical management.
• Understanding PFK deficiency's infantile manifestations aids in prognosis and supportive care strategies.
• Further research into PFK deficiency can lead to novel therapeutic approaches.