Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis

Area of Science:

• Genetics
• Metabolic Disorders
• Pediatrics

Background:

• Prolidase deficiency is an autosomal recessive condition with highly variable clinical presentations.
• Clinical severity ranges from asymptomatic to fatal, complicating prognosis and management.
• Genetic counseling for prolidase deficiency presents challenges due to unpredictable disease course.

Observation:

• This study reports the first prenatal diagnosis of prolidase deficiency in a family with a previously severely affected child.
• The parents pursued a second pregnancy, resulting in a healthy-appearing infant.
• Despite prenatal diagnosis, the infant was confirmed to have severe prolidase deficiency postnatally.

Findings:

• The infant, diagnosed with severe prolidase deficiency, remained asymptomatic at 4 months of age.
• This contrasts with the family's first child who exhibited severe symptoms from birth.
• Prenatal diagnosis confirmed the condition, but the infant's asymptomatic state was unexpected.

Implications:

• The feasibility of prenatal diagnosis for prolidase deficiency is established.
• The unpredictable clinical variability underscores the difficulties in genetic counseling.
• Further research is needed to understand the factors influencing prolidase deficiency severity.