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Navigating the Diagnostic Journey in Pediatric Gastroenterology: Decoding Recurrent Vomiting and Epigastric Pain in a
Ho-Poh Kek1, Wan-Long Tsai1, Pao-Chin Chiu2
1Department of Pediatrics, E-Da Hospital, I-Shou University, No. 1, Yi-Da Road, Yan-Chao District, Kaohsiung City 82445, Taiwan, R.O.C..
Insights
Glutaric aciduria type II (GA II), a rare metabolic disorder, can present with non-specific gastrointestinal symptoms. Early diagnosis through genetic testing and dietary management is crucial for affected children.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Glutaric aciduria type II (GA II), or multiple acyl-CoA dehydrogenase deficiency (MADD), is an inherited metabolic disorder.
- It is characterized by a wide spectrum of clinical presentations and age of onset.
- GA II is inherited in an autosomal recessive pattern.
Observation:
- A 10-year-old girl presented with recurrent vomiting and epigastric pain, exacerbated by specific foods.
- Initial evaluations suggested cyclic vomiting syndrome, but persistent metabolic abnormalities prompted further investigation.
- Symptoms included metabolic acidosis and hypoglycemia during recurrent hospital admissions.
Findings:
- Advanced diagnostics, including urinary organic acid analysis and genetic testing, identified pathogenic variants in the ETFDH gene.
- These findings confirmed a diagnosis of Glutaric aciduria type IIc.
- The patient responded favorably to a specialized diet (low-protein, low-fat) and supplementation with carnitine and riboflavin.
Implications:
- This case underscores the diagnostic difficulties in distinguishing rare metabolic disorders from common gastrointestinal issues in children.
- It highlights the importance of a comprehensive differential diagnosis for recurrent, nonspecific symptoms.
- Considering metabolic disorders is crucial for accurate diagnosis and effective management in pediatric cases.
Background:
Glutaric aciduria type II (GA II), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare autosomal recessive metabolic disorder with varied manifestations and onset ages.
Case Report:
This study presents a distinctive case of a 10-year-old girl who experienced episodic, intermittent vomiting and epigastric pain, particularly aggravated by high-fat and sweet foods. Despite inconclusive physical examinations and routine laboratory tests, and an initial suspicion of cyclic vomiting syndrome, the persistence of recurrent symptoms and metabolic abnormalities (metabolic acidosis and hypoglycemia) during her third hospital admission necessitated further investigation. Advanced diagnostic tests, including urinary organic acid analysis and genetic testing, identified heterozygous pathogenic variants in the ETFDH gene, confirming a diagnosis of GA IIc. The patient showed a positive response to a custom low-protein, low-fat diet supplemented with carnitine and riboflavin.
Significance:
This case emphasizes the diagnostic challenges associated with recurrent, nonspecific gastrointestinal symptoms in pediatric patients, particularly in differentiating between common gastrointestinal disorders and rare metabolic disorders like GA II. It highlights the importance of considering a broad differential diagnosis to enhance understanding and guide future medical approaches in similar cases.
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