Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

DEMS exam 2 part 1 > Hypoglycemia and inborn errors of fat and carbohydrate metabolism > Flashcards

Hypoglycemia and inborn errors of fat and carbohydrate metabolism Flashcards

1
Q

Symptoms of hypoglycemia in infants

A 
Tremors
Cyanosis
Lethargy
Poor feeding
Convulsions
Or, no symptoms
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

what is the Normal tolerance of fasting (until BG <70 mg/dL) for Infants 1 week to 1 year

A

15-18 hours
Glycogen stores last ~4 hours
Elevation of ketones after 12-18 hours

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

what is the Normal tolerance of fasting (until BG <70 mg/dL) for a 1 year old

A

24 hours

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

what is the Normal tolerance of fasting (until BG <70 mg/dL) for a 5 year old

A

36 hours
Glycogen stores last ~8 hours
Elevation of ketones after 18-24 hours

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

what is the Normal tolerance of fasting (until BG <70 mg/dL) for an adult

A

48-72 hours

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is Fructose 1-6 Bisphosphatase Deficiency

A
  • disorder of gluconeogenesis
  • severe hypoglycemia after a moderate duration of fasting
  • severe lactic acidosis with very low pH and Kussmaul breathing
  • treatment: avoid fasting
  • fasting tolerance improves some, but adults remain symptomatic with fasting
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Glucose 6 phosphatase deficiency (Glycogen storage disease type 1a)

A
  • presents at a few months of age
  • short fast hypoglycemia
  • hypertriglyceridemia, hyperuricemia, elevated lactate
  • large hepatomegaly
  • poor growth
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

what is (GSD 1b) glucose 6 phosphate transporter deficiency,

A

results in neutropenia and inflammatory bowel disease in addition to the features of 1a

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

what is the treatment for GSD1 in infants?

A

G-tube or NG tube for continuous overnight feeds

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

what is the treatment for GSD1 in for older children

A

uncooked cornstarch every 4 hours (acts like glycogen in the gut

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What should you monitor for in GSD1 patients

A

gout, pancreatitis, renal insufficiency, liver masses

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

what is the Tx for GSD1b

A

granulocyte colony stimulating factor (G-CSF) shots ( to stimulate neutrophil production, colectomy
- allopurinol (for gout)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Describe GSD3: ɑ1-6 glucosidase deficiency

A

presentation = hepatomegaly, elevated liver enzymes, elevated creatine kinase

  • relatively short fast ketotic hypoglycemia
  • most patients (85%) have both muscle and liver involvement
  • hypoglycemia becomes less common with age and fasting duration is increased
  • skeletal myopathy and sometimes cardiomyopathy are progressive
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the Tx of GSD3: ɑ1-6 glucosidase deficiency

A

uncooked cornstarch

- early trials of ketogenic diet appear to show efficacy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Describe GSD6 and GSD9

A

glycogenolysis disorders

deficiencies of glycogen phosphorylase (1-4 glucosidase) and glycogen phosphorylase kinase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

how do GSD6 and GSD9 present?

A

milder hepatic glycogenosis

  • hepatomegaly is less severe, hypoglycemia is less severe
  • may just present with mild persistent LFT elevations, slow growth
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

what is the treatment of GSD6 and GSD9

A

treat with uncooked cornstarch, though many teens and adults do not require treatment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

GSD9 can be seen more commonly in boys, why?

A

X-linked

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

what is GSD4?

A

Glycogen Synthesis disorder - > glycogen branching enzyme (GBE) deficiency (catalyzes formation of the 1-6 bond) results in abnormal straight glycogen

20
Q

how does GSD4 present?

A

presents with early liver failure (age 1y-6y)

21
Q

what is the Tx for GSD4

A

requires liver transplant for treatment

22
Q

What is GSD0

A

glycogen synthase deficiency

23
Q

How does GSD0 present?

A
  • no hepatomegaly

- presents with isolated ketotic hypoglycemia

24
Q

what are some findings that could clue you to GSD0

A

post-prandial elevated lactate and serum glucose

25
Q

what is Hereditary fructose intolerance

A

deficiency of the enzyme aldolase B, which allows fructose to be metabolized via glycolysis

26
Q

what is the pathophysiology of Hereditary fructose intolerance

A

toxic accumulation of fructose 1 phosphate (F1P)

  • F1P depletes phosphate (and hence ATP), causing acute liver injury
  • F1P inhibits glycogenolysis and gluconeogenesis
27
Q

WHAT IS THE PRESENTATION OF Hereditary fructose intolerance

A
  • presents with acute liver injury and hypoglycemia when children first consume fructose (typically fruit purees at a few months of age)
28
Q

what is the Tx of Hereditary fructose intolerance

A

fructose avoidance

29
Q

How does Galactosemia present

A

presents at a few days of age with poor feeding, jaundice, altered mental status, coagulopathy, liver disease, cataracts, E Coli sepsis (specific immune defect)

30
Q

what is the Tx of Galactosemia

A

treatment = soy formula for infants, avoidance of lactose for older children

31
Q

what are some chronic complications that can occur in galactosemia even with galactose avoidance:

A

learning disability, ovarian failure

32
Q

_____ is the most common disorder of fat metabolism, children are completely asymptomatic unless fasting

A

Medium chain acyl CoA dehydrogenase deficiency

33
Q

what is symptomatic presentation of Medium chain acyl CoA dehydrogenase deficiency (MCADD)

A

is “Reye-like syndrome” – acute hepatic encephalopathy

- elevated LFTs, elevated uric acid, altered mental status, hypoketotic hypoglycemia

34
Q

how is Medium chain acyl CoA dehydrogenase deficiency diagnosed and treated

A

treatment is simply avoidance of fasting

Diagnosis = acylcarnitine profile

35
Q

what is the presentation of Very long chain acyl CoA dehydrogenase deficiency (VLCADD)

A

severe neonatal presentation = hypoketotic hypoglycemia, cardiomyopathy, sudden cardiac death due to arrhythmia.
milder presentation = rhabdomyolysis in teens or adulthood

36
Q

what is the treatment of Very long chain acyl CoA dehydrogenase deficiency (VLCADD)

A

treatment = restriction of long-chain fats in diet, supplementation of medium chain fats; also (of course) avoidance of fasting

37
Q

Carnitine deficiency results in a ____

A
  • functional fatty acid oxidation disorder if severe
  • is often secondary to diet or depletion due to conjugation and excretion in situations of organic molecule accumulation in the body
  • most people with the disorder are asymptomatic, but some have hypoketotic hypoglycemia or cardiomyopathy
38
Q

primary carnitine deficiency is a disorder of _______

A

renal re-uptake of carnitine

39
Q

what is the tx of Carnitine deficiency

A

carnitine supplementation

40
Q

In a neonate, measurable serum insulin in the face of hypoglycemia is indicative of ______

A

hyperinsulinism

41
Q

what is the treatment for hyperinsulinism

A

continuous feeds/IVs, diazoxide, octreotide, pancreatic resection

42
Q

what are other causes of hyperinsulinism

A

1) exogenous administration
- can check serum C-peptide level to see if it correlates with insulin
2) dumping syndrome
- common in children with G-tube and Nissen fundoplication
3) insulinoma
- hormone-secreting pancreatic tumor, may be associated with a genetic cancer predisposition syndrome
4) Beckwith-Wiedemann Syndrome
- an epigenetic disorder of growth regulation that is often associated with transient neonatal hyperinsulinism

43
Q

hypopituitarism is often associated with ____

A

structural brain malformations and optic nerve hypoplasia

44
Q

infants with hypopituitarism may have _______

A

prolonged jaundice, and may have eye movement abnormalities

45
Q

post prandial lactate and glucose elevation = disorder of ______

A

glycogen synthesis

46
Q

fasting lactate elevation = disorder of _______

A

gluconeogenesis

47
Q

low ratio of ketones to free fatty acid = _______ disorder

A

fatty acid oxidation

DEMS exam 2 part 1 (17 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions