USMLE RX Flashcards
features of trptophan deficiency
also called niacin
- dementia, diarrhoea, dermatitis
(pellagra)
what mode of inheritance is haemochromatosis
autosomal recessive
what mode of inheritance is CF
autosomal recessive
what mode of inheritance is hereditary spherocytosis
autosomal dominant
what mode of inheritance is glucose-6-phosphate dehydrogenase deficiency
x-linked recessive
what vitamin is biotin and when is it found
vitamin B7
excessive ingestion of egg whites, antibiotic use
alcoholic hypoglycaemia results due to an increase in what metabolite ratio
NADH:NAD
increased NADH to the liver inhibits gluconeogenesis
in alcohol intoxication does serum Na go high or low
remains normal
serum osmolality increases with normal Na
presentation of glucose-6-phosphate deficiency
infancy
hepatomegaly
hypoglycaemia
lactic acidosis
(unable to convert G6P to glucose which causes accumulation of glycogen in the liver so results in hypoglycaemia. different from other glycogen storage diseases due to hepatomegaly)
presentation of galactose-1-phosphate uridyltransferase
galactosaemia
infantile cataracts
hepatomegaly
vomiting and jaundice
occurs upon ingestion of formula milk
presentation of alpha-1,6 - glucosidase (cori disease)
hypotonia
wasting
hypoglycaemia
hepatomegaly
elevated CK
pathophysiology of cori disease
deficiency in liver debranching enzyme (alpha 1,6, glucosidase)
