DGAT1 mutations leading to delayed chronic diarrhoea: a case report

Area of Science:

• Genetics
• Gastroenterology
• Biochemistry

Background:

• Mutations in diacylglycerol o-acyltransferase 1 (DGAT1) are linked to early-onset chronic diarrhoea, often indicative of congenital disorders.
• DGAT1 deficiency cases are rare, typically presenting with severe neonatal or early infantile diarrhoea.

Observation:

• A female patient presented with delayed-onset chronic diarrhoea, vomiting, hypoalbuminemia, hypertriglyceridemia, and failure to thrive.
• Intractable diarrhoea persisted until 8 months of age.
• A novel compound heterozygous DGAT1 mutation, identified in the Chinese population, was found in the patient.

Findings:

• The patient's symptoms and nutritional status improved significantly with nutritional therapy, including a fat-restricted diet.
• This case demonstrates that intractable chronic diarrhoea with delayed onset can also stem from congenital DGAT1 mutations.

Implications:

• This report expands the known clinical spectrum of DGAT1 mutations, including delayed-onset diarrhoea.
• It underscores the importance of considering congenital disorders in cases of unexplained chronic diarrhoea, even with later onset.
• Early diagnosis and appropriate nutritional management, such as dietary fat restriction, are crucial for improving outcomes in DGAT1 deficiency.