Brainscape's Knowledge GenomeTM

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


See full index

laughing your way peds > Metabolism > Flashcards

Metabolism Flashcards

1
Q

Conditions presenting with metabolic acidosis and elevated serum ammonia

A

Propionic acidemia
Methylmalonic acidemia
Fatty acid oxidation defect

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

Conditions presenting with metabolic acidosis and normal serum ammonia

A

MSUD
Some organic acidemias
Sepsis

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

Conditions presenting with normal blood gas and elevated ammonia level

A

Urea cycle defect

Transient hyperammonemia

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

Conditions presenting with normal blood gas and ammonia level

A

Aminoacidopathy
Galactosemia
Non ketotic hyperglycinemia

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

How do kids with organic acidemias present and when do they present

A

Drunk like picture with decreased appetite, falling down frequently, delayed development, no dysmorphology.

2 days after introduction of protein in diet

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

What are the fatty acid oxidation defect disorders

A

Medium long and very long chain acyl-CoA dehydrogenase deficiencies and glutaric aciduria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

How does a child with fatty acid oxidation defect present

A

Hypoglycemia and hepatomegaly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

How do you diagnose fatty acid oxidation defects

A

Plasma acylcarnitine profile

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

Lab findings in fatty acid oxidation defects

A

Absence levels of reducing substances and ketones in the urine

Normal serum amino acids

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

How does urea cycle defect present

A

Hyperammonemia in the absence of acidosis and ketosis

Symptoms consistent with encephalopathy

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

In an infant with hypoglycemia what is the most important measurement to determine the etiology

A

Urine measurement of ketones and reducing substances

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

Presentation of galactosemia

A

Poor feeding, FTT
Abdominal distention with hepatomegaly
Hypoglycemia
Non glucose reducing substances in the urine
Lethargy and hypotonia
Prolongued jaundice
Infection with gram negative organisms including e. Coli

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

What is galactosemia due to

A

Deficiency of galactose 1 phosphate uridyltransferase (GALT)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

How do you diagnose galactosemia

A

Measuring GALT in RBCs

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

Failure to treat galactosemia may result in what

A

Cataracts, intellectual disability, liver disease

Cataracts is reversible with diet changes!

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

What lab abnormalities can you see in infants of a diabetic mother

A

Hypoglycemia
Hypocalcemia
Hyperbilirubinemia
Polycythemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

How does maple syrup urine disease present

A

Hypoglycemia, acidosis, increased tone and odor of maple syrup in urine

Classic onset is the first week of life

18
Q

Tx for galactosemia

A

Soy formula

Antibiotic it gram negative infection

19
Q

Dx for an infant with hypoglycemia, generalized seizure, macrosomia and macrocephaly

A

Hyperinsulinism

20
Q

Dx when infant presents with hypoglycemia, macrosomia, microcephaly, omphalocele

A

Beckwith wiedemann syndrome

21
Q

How does adrenal insufficiency present

A

Hypoglycemia and ketones in urine

22
Q

How does von gierke disease (glycogen storage type 1) present

A

Hypoglycemia and lactic acidosis WITH fasting
Hepatomegaly
Elevated TG and cholesterol
Poor growth

Bc with fasting doesn’t present until infant sleeps throughout the night

23
Q

Lab findings with von gierke

A

Elevated lactic acid and uric acid level

24
Q

What is von gierke due to

A

Deficiency in hepatic glucose 6 phosphatase

25
Q

Tx for von gierke

A

Frequent snacks and meals. Before age 2 may need continuous tube feeding with glucose

26
Q

How does pompe disease present (glycogen storage type II)

A

One month of age or younger but not at birth

Floppy, FTT, macroglossia, cardiomegaly

27
Q

What is pompe disease due to

A

Deficiency in lysosomal breakdown of glycogen

28
Q

Which amino acids have elevated plasma levels in maple syrup urine disease

A

Vial*

Valine
Isoleucine
Alloisoleucine
Leucine

29
Q

What is homocystinuria due to

A

Cystathionine synthase deficiency (inability to metabolize methionine) results in elevated blood methionine levels and elevated urine homocysteine levels

30
Q

Presentation of homocystinuria

A

Posterior lens displacement, cognitive defect, skeletal abnormalities

31
Q

What is PKU due to

A

Deficiency to covert phenylalanine to tyrosine resulting in elevated phenylalanine levels

32
Q

Presentation of PKU

A

Blond hair and blue eyes
Severe vomiting, irritability, eczema
Musty or mousy odor of urine

33
Q

Late signs of untreated PKU

A

Microcephaly, congenital heart disease, low birth weight, profound intellectual disability

34
Q

Tx of PKU

A

Low phenylalanine formula

35
Q

Presentation of a pt with PKU who has been over treated

A

Lethargy, rash, diarrhea

36
Q

Which amino acid becomes an essential amino acid in PKU

A

Tyrosine

37
Q

How does hurler syndrome present (MPS type I)

A 
Before age 2
Facial coarsening 
Hirsutism
Hepatomegaly 
Thick skull 
Corneal clouding 
Severe intellectual disability
38
Q

How does hunter syndrome present (MPS type II)

A

Hepatosplenomegaly
Course facial features
Joint contractures
NO corneal clouding

X-linked

39
Q

How does gaucher disease present

A

Hepatosplenomegaly
Bone pain
Anemia and thrombocytopenia

Osteosclerosis and lytic lesions on XRAY

40
Q

Presentation of tay Sachs disease

A

Progressive neurological deterioration - normal development in first 9 months

“Cherry red spots”

Death by age 5

41
Q

How does niemann pick present

A

CNS deterioration
Cherry red spot
AND hepatosplenomegaly

laughing your way peds (26 decks)

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