MEDgems 4 Flashcards
what enzyme does lomatipide act on?
microsomal triglyceride transfer protein
can treat familial hypercholesterolaemia
high trigylceride means what
primary hypertriglyceridaemia
1) Type 1 - lipoprotein lipase / apoC II
2) Type 5 - apoA V
4) Increased synthesis of TG
high triglyceride and apoE2 present?
Type 3 hyperlipoproteinaemia
familial dysBlipoproteinaemia
yellow discolouration also present
what enzyme is missing in lesch nyhan syndrome?
HGPRT
A patient’s blood tests have returned and show they have a low serum sodium level. What investigation should be done to determine if this is a true hyponatraemia
serum osmolality
Blood sulfonylurea levels need to be checked when?
to check if hypoglycaemia is factitious or not
An asymptomatic 50 year old man attends his GP for a routine check-up.
His fasting plasma glucose is measured as 6.7 mmol/L. What is the diagnosis
impaired fasting glucose
how is acute intermittent porphyria investigated?
Investigated?
Urine porphobilinogen