Maeve 1

Question 1

Make up lactose?

Answer 1

Galactose + glucose

Enzyme: lactase

Question 2

Make up sucrose?

Answer 2

Fructose + glucose

Enzyme: sucrase

Question 3

Make up maltose?

Answer 3

2x glucose

Enzyme: maltase

Question 4

SGLT-1 transports?

Answer 4

Glucose + galactose with Na+

Into enterocyte if SI

Question 5

GLUT-5 transports?

Answer 5

Fructose into eyrthrocyte of SI

Question 6

GLUT-2 transports?

Answer 6

Glucose + fructose out of erythrocyte

Question 7

SLC5A1 mutation - problem?

Answer 7

Codes for SGLT-1

Glucose-galactose malabsorption

Question 8

Ingestion of what will cause diarrhoea in glucose-galactose malabsorption?

Answer 8

Glucose
Galactose
Lactose
Sucrose
Maltose

Question 9

Teen girl tires easily w excersise - c/o sore muscles. Then improves after 10 mins. Whats the problem? Invx?

Answer 9

GSDV - McArdle Disease
Mutations in muscle gylcogen phosphorylase
AR
Test: sequence PGYM gene

Question 10

Metabolic condition w bilateral subdural haemorrhages?

Answer 10

Glutaric acidaemia (GA1)

Question 11

Glutaric acidaemia - presentation + tx

Answer 11

Sepsis like - ketoacidosis, high ammonia, low bgl
Rarely presents as newborn
Tx: L-carnitine + low protein diet

Question 12

Test for galactosaemia?

Answer 12

RBC galactose 1 phosphate activity

E coli sepsis

Question 13

2 day old presenta w vomiting, poor feeding, jaundiced + hepatomegaly. Metabolic cause?

Answer 13

Galactosaemia

Question 14

Urea cycle defects - blood test? Presentation?

Answer 14

Ammonia
First 48 hrs of life
Lethargic, poor feeding, tachypnoiec

Question 15

Causes of congenital ichthyosis?

Answer 15

Gaucher Disease Type 2 - neurological deficits
Ichythyosis vulgaris
Netherton syndrome - SPINK5 gene + bamboo hair (trichirrhexis invaginate) + atopy
Hay wells syndrome