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April 28, 2026Open Access

Long-Chain Fatty Acid Oxidation Disorder Presenting with Metabolic Acidosis in a Preterm Infant

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DPDharmikkumar S. PatelPramukhswami Medical College KMKeyur H. MadhuPramukhswami Medical College DTDeepak R. ThakorGandhi Medical College & Hospital

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Implication

Case report reveals metabolic acidosis in preterm infant with long-chain fatty acid oxidation disorder, indicating the need for early diagnosis and intervention.

Key Points

To describe a case of long-chain fatty acid oxidation disorder presenting with metabolic acidosis in a preterm infant.
Reported a 33.5-week gestation male neonate with persistent metabolic acidosis, hypokalaemia, and hypocalcaemia.
Newborn screening via tandem mass spectrometry revealed elevated long-chain acylcarnitines and hydroxyacylcarnitines.
Urine analysis showed significant increases in 4-hydroxyphenyllactic acid and mild elevations in 4-hydroxyphenylpyruvic acid.
Management included avoidance of fasting, continuous glucose infusion, and medium-chain triglyceride supplementation, leading to gradual biochemical improvement.
Newborn screening detected a pattern suggestive of VLCAD or mitochondrial trifunctional protein deficiency.
The case highlights the complexity of metabolic screening in preterm infants, emphasizing the need for clinical context.

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Patel et al. (2026) studied this question.

synapsesocial.com/papers/69f04edc727298f751e72bbe https://doi.org/10.5281/zenodo.19787803

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Implication

Case report reveals metabolic acidosis in preterm infant with long-chain fatty acid oxidation disorder, indicating the need for early diagnosis and intervention.

Long-Chain Fatty Acid Oxidation Disorder Presenting with Metabolic Acidosis in a Preterm Infant

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Cite This Study

Long-Chain Fatty Acid Oxidation Disorder Presenting with Metabolic Acidosis in a Preterm Infant

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Implication

Key Points

Cite This Study

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