Peer-reviewed article
Novel homozygous variant in ACSL5 gene causing Congenital Diarrhea and Enteropathy (CODE) with sustained therapeutic success: a case report.
Mehdi Vafadar, Vahid Saeedi, Elham Zarei, Leila Kamalzadeh ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This is a medical case report describing a single infant with a rare genetic disorder causing chronic diarrhea and malnutrition. The child was diagnosed through genetic testing and treated with a specialized diet. While the case describes a child's health outcome, it is a clinical case report about disease diagnosis and medical management rather than research on child well-being, health systems, or interventions with broader applicability.
Key points
- A novel genetic variant in the ACSL5 gene was identified as the cause of congenital diarrhea and enteropathy in one infant
- The child presented with chronic diarrhea, vomiting, and severe growth faltering from early infancy
- A medium-chain triglyceride-enriched, low-fat diet initiated at 8 months led to resolution of symptoms within weeks
- At 4 years follow-up, the child showed catch-up growth with weight and height at the 50th percentiles and normal development
Limitations
This is a single case report with no comparison group or broader population context, so findings cannot be generalized. It does not evaluate the intervention's effectiveness across multiple patients or settings.
Abstract
BACKGROUND: Congenital Diarrhea and Enteropathies (CODEs) are rare monogenic disorders with early-onset diarrhea, feeding intolerance, and malabsorption causing secondary failure to thrive (FTT). ACSL5 deficiency is an emerging CODE subtype linked to defective intestinal fatty acid metabolism and dysregulated satiety signaling. CASE PRESENTATION: A female infant presented with chronic diarrhea, postprandial vomiting, and severe growth faltering. First-line evaluations were unrevealing. Proband-only whole-exome sequencing (WES) identified a novel homozygous missense variant in ACSL5, NM_016234.4:c.1748G > A, p.(Gly583Asp) (OMIM #620357), absent from population/clinical databases; in the context of consanguinity and fitting phenotype, findings supported ACSL5-related CODE. A medium-chain triglyceride (MCT)-enriched, low-fat diet started at 8 months led to resolution of gastrointestinal symptoms within weeks and sustained catch-up growth. At 4 years, the child was asymptomatic with weight/height around the 50th percentiles and normal development. CONCLUSIONS: This case broadens the clinical/variant spectrum of ACSL5-related enteropathy and highlights a dual mechanism, impaired intestinal long-chain fatty-acid activation with enteroendocrine dysregulation. Early exome sequencing and MCT-based nutrition can enable rapid symptom control and durable growth recovery.