Donohue Syndrome, Insulin Resistance and Obesity: Lessons for the General Population?

Donohue Syndrome – also known as leprechaunism – is a very rare disorder that is unfortunately "usually fatal within the first year of life."

1. This article -- "Leprechaunism/ Donohue syndrome/ insulin receptor gene mutations: a syndrome delineation story from clinicopathological description to molecular understanding" -- tells us that the disease is caused "by mutations in the insulin receptor gene and characterized by... lipodystrophy, characteristic facial features... abnormal glucose homeostasis and severe insulin resistance."[1]

2. This article from Diabetes 1998 -- "Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome" --- also drives home the point that this disorder associates with abnormal fat accumulation, characteristic symptoms, and changes to insulin receptors.[2]

Okay, so why are these connections important? What can they tell us about the fundamental reason why so many of us today are fat?

In fact, weight gain due to Leprechaunism powerfully supports the Lipophilia Hypothesis and powerfully refutes the Caloric Balance Hypothesis.

Infants who gain abnormal amounts of weight -- and who simultaneously suffer lipodystrophy -- clearly suffer not from an imbalance of calories but from a host of physiological imbalances. You can't blame these symptoms on overeating and inactivity. These babies aren't overly indulged. They're sick. The problem is in the body, not the brain.

So why then do we so cavalierly assert that "excess calories" drive obesity in the general population? It makes no sense.

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References


1. Kosztolányi G. "Leprechaunism/ Donohue syndrom/ insulin receptor gene mutations: a syndrome delineation story from clinicopathological description to molecular understanding" Eur J Pediatr. 1997 Apr;156(4):253-5.

2. Whitehead JP, Soos MA, Jackson R, Tasic V, Kocova M, O'Rahilly S. "Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome" Diabetes. 1998 Aug;47(8):1362-4.

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