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Flashcards in Metabolism Deck (41):
1

Conditions presenting with metabolic acidosis and elevated serum ammonia

Propionic acidemia
Methylmalonic acidemia
Fatty acid oxidation defect

2

Conditions presenting with metabolic acidosis and normal serum ammonia

MSUD
Some organic acidemias
Sepsis

3

Conditions presenting with normal blood gas and elevated ammonia level

Urea cycle defect
Transient hyperammonemia

4

Conditions presenting with normal blood gas and ammonia level

Aminoacidopathy
Galactosemia
Non ketotic hyperglycinemia

5

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

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

2 days after introduction of protein in diet

6

What are the fatty acid oxidation defect disorders

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

7

How does a child with fatty acid oxidation defect present

Hypoglycemia and hepatomegaly

8

How do you diagnose fatty acid oxidation defects

Plasma acylcarnitine profile

9

Lab findings in fatty acid oxidation defects

Absence levels of reducing substances and ketones in the urine

Normal serum amino acids

10

How does urea cycle defect present

Hyperammonemia in the absence of acidosis and ketosis

Symptoms consistent with encephalopathy

11

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

Urine measurement of ketones and reducing substances

12

Presentation of galactosemia

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

13

What is galactosemia due to

Deficiency of galactose 1 phosphate uridyltransferase (GALT)

14

How do you diagnose galactosemia

Measuring GALT in RBCs

15

Failure to treat galactosemia may result in what

Cataracts, intellectual disability, liver disease

Cataracts is reversible with diet changes!

16

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

Hypoglycemia
Hypocalcemia
Hyperbilirubinemia
Polycythemia

17

How does maple syrup urine disease present

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

Classic onset is the first week of life

18

Tx for galactosemia

Soy formula
Antibiotic it gram negative infection

19

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

Hyperinsulinism

20

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

Beckwith wiedemann syndrome

21

How does adrenal insufficiency present

Hypoglycemia and ketones in urine

22

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

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

Lab findings with von gierke

Elevated lactic acid and uric acid level

24

What is von gierke due to

Deficiency in hepatic glucose 6 phosphatase

25

Tx for von gierke

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

26

How does pompe disease present (glycogen storage type II)

One month of age or younger but not at birth

Floppy, FTT, macroglossia, cardiomegaly

27

What is pompe disease due to

Deficiency in lysosomal breakdown of glycogen

28

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

Vial*

Valine
Isoleucine
Alloisoleucine
Leucine

29

What is homocystinuria due to

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

30

Presentation of homocystinuria

Posterior lens displacement, cognitive defect, skeletal abnormalities

31

What is PKU due to

Deficiency to covert phenylalanine to tyrosine resulting in elevated phenylalanine levels

32

Presentation of PKU

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

33

Late signs of untreated PKU

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

34

Tx of PKU

Low phenylalanine formula

35

Presentation of a pt with PKU who has been over treated

Lethargy, rash, diarrhea

36

Which amino acid becomes an essential amino acid in PKU

Tyrosine

37

How does hurler syndrome present (MPS type I)

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

38

How does hunter syndrome present (MPS type II)

Hepatosplenomegaly
Course facial features
Joint contractures
NO corneal clouding

X-linked

39

How does gaucher disease present

Hepatosplenomegaly
Bone pain
Anemia and thrombocytopenia

Osteosclerosis and lytic lesions on XRAY

40

Presentation of tay Sachs disease

Progressive neurological deterioration - normal development in first 9 months

"Cherry red spots"

Death by age 5

41

How does niemann pick present

CNS deterioration
Cherry red spot
AND hepatosplenomegaly