The information on this page is for physicians treating either DANIEL JAMES HALDER YORKE or OLIVER CHARLES DOUGLAS.
Both boys have an extremely rare genetic disorder. (Only 11 individuals have been identified worldwide to date in 2016.) This presents as ketoacidosis when the boys are unwell, or if they have high energy demands through exercise, or if they vomit or otherwise fast for an extended period (>4 hours during the day, >8h at night). The ketotic condition may appear to be similar to diabetes, but the boys DO NOT HAVE DIABETES. During a ketotic/ketoacidotic episode, blood sugars often remain normal. This is a CRITICALLY IMPORTANT point! In the past, treating physicians unfamilar with MCT1 deficiency have been of the view that IV glucose is not required because of the normal blood sugar readings. This is NOT the case, and glucose IS REQUIRED.
Test BLOOD ketones. (Note that urine ketones can be tested, but because the urine assay is for aminoacetate this is a non-preferred alternative. This is because under certain circumstances, a low urine test reading DOES NOT confirm the absence of ketoacidosis.)
First line of treatment is with oral carbohydrates (glucose) or, if they are unable to tolerate oral intake, administer 10% dextrose/saline intravenously.
Management of ketoacidosis may be required.
Emergency Care Plan - OLIVER CHARLES DOUGLAS DOB 29.09.2002
Emergency Care Plan - DANIEL JAMES HALDER YORKE DOB 26.09.2009
Detailed case history - Both boys
New England Journal of Medicine Article where MCT1
deficiency was first reported and the Appendices (and the
Editorial within that
issue)
Reference: N Engl J Med 2014;371:1900-7. DOI: 10.1056/NEJMoa1407778
Published paper which focused specifically on the case history and
management of Oliver and Daniel:
Heterozygous Monocarboxylate Transporter 1
(MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis
Reference: DOI 10.1007/8904_2015_519