In born errors of metabolism 1

Question 1

5. List the key laboratory studies that should be obtained in the patient with hypoglycemia that will help elucidate the underlying cause.

Answer 1

c peptide, insulin, counter regulatory, ketones, lactate, carnitine

Question 2

G 6 Phosphatase deficiency

Answer 2

Hypoglycemic, low insulin, large liver, high lactate, high triglycerides. early presentation, short stature, doll phase

Tx with constant glucose

can build glycogen cant get it out, so it goes to pyruvate and lactate–> lactic acidosis

Question 3

whipples triad

Answer 3

for hypoglycemia

classic neuro or autonomic symptoms
BG

Question 4

branching enzyme deficiency

Answer 4

abnormal glycogen, liver damage–> cirrhosis by age 4-6
hepatosplenomegaly, failure to thrive

abnormal glycogen accumulated in muscle and heart (cardiomyopathy)

evidence of issues during exercise

Question 5

Glycogen synthase deficiency

Answer 5

hyperglycemia after a meal, followed by hypoglycemia later.
increased lactate, and severe ketotic hypoglycemia
normal liver
Tx- high protein diet, low glycemic index (corn starch)

Question 6

glycogen phosporylase

Answer 6

1

Question 7

Glycogen phosphorylase kinase

Answer 7

1

Question 8

debranching enzyme

Answer 8

hypoglycemia, big liver, growth retardation
normal uric acid and lactate
elevation of liver enzymes due to damage
fasting ketosis

milder presnetation on hypoglycemia

Tx- low glycemic index (corn starch), keep blood sugar above 70

Question 9

pyruvate carboxylase deficiency

Answer 9

issue with gluconeogenesis probably lethal

Question 10

PepCK deficiency

Answer 10

issue with gluconeogenesis probably lethal

Question 11

Fructose-1,6-bisphosphatase deficiency

Answer 11

high lactate, metabolic acidosis, kussmaul bleathing
hypoglycemia, late and mild
ketones are present
Tx- give glucose, avoid long fasting

Question 12

Herditary fructose intolerance

Answer 12

AR, absesne of aldolase B leads to intracellular trapping of fructose 1-P. toxic to liver kidney brain

happens when fruit is introduced

nausea vomiting sweating hypoglycemia

Question 13

Galactosemia

Answer 13

UDP transferase, cataracts, hepatospenomegaly and cirrhosis

Lactose free diet

galactosemia, galactosuria, nausea vomiting and jaundice

Question 14

galactokinase deficiency

Answer 14

cant phosphorylate galactose

causes galactosemia and galactosuria,

Question 15

inborn errors of fat metabolism

Answer 15

fasting hypoglycemia with low ketones, no big liver(liver failure-cant get fuel) hypotonia
deprive gluconeogenesis of a fuel source
makes tissue obligate glucose users

exercise induced rhabdo

Question 16

carnitine issues

Answer 16

1

Question 17

acyl coa dehydrogenase deficiency

Answer 17

AR
can be specific to chain length 
medium chain most common
hypoglycemia, Urine organic acids (cant utilize them
acyl coa derivatives in blood

muscle and heart dysfucntion
hypoglycemia
no ketones, fatty liver and hepatomegaly (less dreamatic)

Tx- avoid fasting, carb rich diet

Question 18

HMG-CO synthase or Lyase

Answer 18

no ketones (milder)

Question 19

counter regulatory hormone issues

Answer 19

hypopituitarism, growth hormone def, ACTH or cortisol def. (addisons) beta blockers

Question 20

defects in insulin suppression

Answer 20

congenital hyperinsulinism
infant of a diabetic mother
iatrogenic (innapropriate insulin)
insulinoma

Question 21

ketotic hypoglycemia

Answer 21

one of the most common cuases of hypoglycemia in childhood
Dx of exclusion
lack of substrates for gluconeogenesis, hypoglycemia after fasting, sponataneously goes away as they age