London boy dies of rare genetic condition after drinking protein shake; here’s more on the OTC shortage

Dr Manoj Vithlani, Resident Physician, Senior Consultant Physician and Diabetologist, HCG Hospitals, Ahmedabad, said symptoms can be vomiting, seizures, lethargy, confusion and coma

protein shakeKnow all about protein stacking (Source: Pexels)

A day after news broke from London in the UK of the death of a 16-year-old boy of Indian descent in 2020, spoke to medical experts to learn about ornithine transcarbamylase (OTC) deficiency, a rare genetic disease who killed Rohan Godhania after drinking a protein shake.

According to the information, Godhania’s father had bought protein shakes for his son to help him build muscle, as his son was quite thin, Metro reported.

What is the shortage of OTC

Ornithine transcarbamylase deficiency (OTC deficiency) is a rare genetic disorder that impairs the body’s ability to process ammonia, resulting in a 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 enzyme ornithine transcarbamylase, which is vital for the breakdown of ammonia during protein metabolism, explained Dr. Manoj Vithlani, Internal Medicine, Senior Consultant Physician and Diabetologist, HCG Hospitals, Ahmedabad.

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

Here’s what to understand (Source: Pixabay)

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

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

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First published on: 2023-06-29 at 5:00 PM IST

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