Metabolism

Question 1

Conditions presenting with metabolic acidosis and elevated serum ammonia

Answer 1

Propionic acidemia
Methylmalonic acidemia
Fatty acid oxidation defect

Question 2

Conditions presenting with metabolic acidosis and normal serum ammonia

Answer 2

MSUD
Some organic acidemias
Sepsis

Question 3

Conditions presenting with normal blood gas and elevated ammonia level

Answer 3

Urea cycle defect

Transient hyperammonemia

Question 4

Conditions presenting with normal blood gas and ammonia level

Answer 4

Aminoacidopathy
Galactosemia
Non ketotic hyperglycinemia

Question 5

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

Answer 5

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

2 days after introduction of protein in diet

Question 6

What are the fatty acid oxidation defect disorders

Answer 6

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

Question 7

How does a child with fatty acid oxidation defect present

Answer 7

Hypoglycemia and hepatomegaly

Question 8

How do you diagnose fatty acid oxidation defects

Answer 8

Plasma acylcarnitine profile

Question 9

Lab findings in fatty acid oxidation defects

Answer 9

Absence levels of reducing substances and ketones in the urine

Normal serum amino acids

Question 10

How does urea cycle defect present

Answer 10

Hyperammonemia in the absence of acidosis and ketosis

Symptoms consistent with encephalopathy

Question 11

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

Answer 11

Urine measurement of ketones and reducing substances

Question 12

Presentation of galactosemia

Answer 12

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

Question 13

What is galactosemia due to

Answer 13

Deficiency of galactose 1 phosphate uridyltransferase (GALT)

Question 14

How do you diagnose galactosemia

Answer 14

Measuring GALT in RBCs

Question 15

Failure to treat galactosemia may result in what

Answer 15

Cataracts, intellectual disability, liver disease

Cataracts is reversible with diet changes!

Question 16

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

Answer 16

Hypoglycemia
Hypocalcemia
Hyperbilirubinemia
Polycythemia

Question 17

How does maple syrup urine disease present

Answer 17

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

Classic onset is the first week of life

Question 18

Tx for galactosemia

Answer 18

Soy formula

Antibiotic it gram negative infection

Question 19

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

Answer 19

Hyperinsulinism

Question 20

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

Answer 20

Beckwith wiedemann syndrome

Question 21

How does adrenal insufficiency present

Answer 21

Hypoglycemia and ketones in urine

Question 22

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

Answer 22

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

Question 23

Lab findings with von gierke

Answer 23

Elevated lactic acid and uric acid level

Question 24

What is von gierke due to

Answer 24

Deficiency in hepatic glucose 6 phosphatase

Question 25

Tx for von gierke

Answer 25

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

Question 26

How does pompe disease present (glycogen storage type II)

Answer 26

One month of age or younger but not at birth Floppy, FTT, macroglossia, cardiomegaly

Question 27

What is pompe disease due to

Answer 27

Deficiency in lysosomal breakdown of glycogen

Question 28

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

Answer 28

Vial* Valine Isoleucine Alloisoleucine Leucine

Question 29

What is homocystinuria due to

Answer 29

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

Question 30

Presentation of homocystinuria

Answer 30

Posterior lens displacement, cognitive defect, skeletal abnormalities

Question 31

What is PKU due to

Answer 31

Deficiency to covert phenylalanine to tyrosine resulting in elevated phenylalanine levels

Question 32

Presentation of PKU

Answer 32

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

Question 33

Late signs of untreated PKU

Answer 33

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

Question 34

Tx of PKU

Answer 34

Low phenylalanine formula

Question 35

Presentation of a pt with PKU who has been over treated

Answer 35

Lethargy, rash, diarrhea

Question 36

Which amino acid becomes an essential amino acid in PKU

Answer 36

Tyrosine

Question 37

How does hurler syndrome present (MPS type I)

Answer 37

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

Question 38

How does hunter syndrome present (MPS type II)

Answer 38

Hepatosplenomegaly Course facial features Joint contractures NO corneal clouding X-linked

Question 39

How does gaucher disease present

Answer 39

Hepatosplenomegaly Bone pain Anemia and thrombocytopenia Osteosclerosis and lytic lesions on XRAY

Question 40

Presentation of tay Sachs disease

Answer 40

Progressive neurological deterioration - normal development in first 9 months "Cherry red spots" Death by age 5

Question 41

How does niemann pick present

Answer 41

CNS deterioration Cherry red spot AND hepatosplenomegaly