London boy dies of rare genetic condition after drinking protein shake; here’s more about OTC deficiency

What is OTC deficiency

Ornithine transcarbamylase deficiency (OTC deficiency) is a rare genetic disorder that impairs the body’s ability to process ammonia, resulting in toxic buildup in the bloodstream. “Consuming a protein drink can worsen this metabolic imbalance, leading to fatal consequences. OTC deficiency is caused by a gene mutation affecting the ornithine transcarbamylase enzyme, vital for ammonia breakdown during protein metabolism,” explained Dr Manoj Vithlani, internal medicine, senior consultant physician and diabetologist, HCG Hospitals, Ahmedabad.

Noting that symptoms vary, Dr Vithlani said that they can include vomiting, seizures, lethargy, confusion, and coma, often triggered by high-protein intake.

Here’s what to understand (Source: Pixabay)

The treatment of OTC deficiency involves dietary changes and medication to reduce ammonia production and accumulation. “In severe cases, emergency measures like hemodialysis may be required. Early diagnosis is crucial, as undetected OTC deficiency can have tragic outcomes. Awareness of this condition is essential, especially when evaluating patients with unexplained symptoms after consuming high-protein foods or drinks,” Dr Vithlani explained.

An inquest at the Milton Keynes Coroner’s Court in Buckinghamshire had previously heard that initially, the post-mortem examination could not identify OTC deficiency as the boy’s cause of death since his organs were donated right after his death.

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