Metabolic

Question 1

Plasma amino acids

Answer 1

Amino Acid disorders

Question 2

Urine organic acids

Answer 2

Organic Acid disorders

Question 3

Plasma acyl carnitines

Answer 3

Fatty Acid Oxidation Disorders (also in some organic acid disorders)

Question 4

New born screen uses

Answer 4

plasma aminoacids and plasma aycylcarnitines

Question 5

Very long chain fatty acids

Answer 5

Peroxismal disorders

Question 6

Urine glycosaminoglycans (GAG)

Answer 6

Mucopolysaccharidoses

Question 7

Hyperammonemia + No acidosis

Answer 7

Urea cycle disorders
testing - plasma amino acids, Urine orotic acid
AG normal.

Question 8

Hyperammonemia + acidosis + ketosis

Answer 8

Organic acidemias (neutropenia, hypoglycemia) test- urine organic acids,
AG elevated

Question 9

Hyperammonemia + acidosis + hypoglycemia (nonketotic)

Answer 9

Fatty Acid Oxidation Disorder

test - Plasma acylcarnitines

Question 10

Vomiting, tachypnea, lethargy, coma, presenting in later half of first week of life.

Answer 10

Hyperamonemia

Question 11

Elevated Anion Gap

Answer 11

lactic acidosis or organic acidemias

severe elevation may also be seen in sepsis or hypoxia due to lactate

Question 12

Mx of Hyperamonemia

Answer 12

1. Fluids
2. D10 +/- insulin
3. Na benzoate, Na phenylbutyrate
4. Dialysis ( if > 500)

Question 13

OTC ornithine transcarbamylase

Answer 13

X- linked, (more common)

Orotic acid elevated

Question 14

CPS

Carbamoyl Phosphate Synthase

Answer 14

AR

Orotic acid normal/elevated

Question 15

ASAS Argininosuccinic Acid Synthase

Answer 15

AR

Question 16

ASAL Argininosuccinic Acid Lyase

Answer 16

AR
Trichorrhexis nodosa (friable hair)

Question 17

ARG Arginase

Answer 17

AR

Spasticity, may not have hyperammonemia

Question 18

Hyperammnonemia long term effects

Answer 18

Developmental delay (proportional to how high and duration)

Question 19

low BUN
elevated urine orotic acid,
abnormal plasma amino acids - low citrulline

Answer 19

OTC deficiency (MC urea cycle defect), 
usually presents in infancy, females may be symptomatic (present in pregnancy),

Question 20

OTCD mx

Acute

Answer 20

1. dialysis
2. scavengers (Nabenzoate )
3. glucose

Question 21

OTCD mx Long term

Answer 21

1. protein restriction
2. special formula
3. scavenger therapy (Na phenylbutyrate)

Question 22

lethargy, hypothermia, irritability, seizures, coma

Answer 22

Hypoglycemia

Question 23

Hypoglycemia + Ketotic + Hi lactate

Answer 23

Glycogen storage disorder, type 1 (MC) and other metabolic disorders, hepatomegally

Question 24

Hypoglycemia + Ketotic + normal lactate

Answer 24

Other GSD, endocrine problems, ketotoc hypoglycemia

Question 25

Hypoglycemia + Ketotic + Hi lactate + severe hepatomegally

Answer 25

hereditary fructose intolerance, presents later in infancy more chronic presentation after you have fruits

Question 26

Hypoglycemia + Ketotic + Hi lactate + reducing substances

Answer 26

Galactosemia (presents in neonatal period + liver disease - die within few weeks of age)

Question 27

Hypoglycemia + Non-Ketotic + presents after fasting

Answer 27

Fatty acid oxidation disorder

Question 28

Hypoglycemia + Non-Ketotic + presents with feeding

Answer 28

Hyperinsulinism 1. Diabetic mother 2. BWS 3. SGA baby 4. Genetic - persistent 5. Exogenous

Question 29

Hypoglycemia + Ketotic + Hepatomegally | cherubic or doll like facies, growth impairment

Answer 29

Hepatic Glycogen Storage disorders, (Ia Von Gierke, Ib, 3 Cori/Forbes, 4 Andersen, 5 Hers) Dx- clinical + liver biopsy for enzyme/DNA Rx- Cornstarch, Nocturnal enteral feeding. Liver transplant.

Question 30

Hypoglycemia + Ketotic + Weakness +/- Cramping (Rhabdomyolysis)

Answer 30

Muscle Glycogen Storage Disorder (2 Pompe, 5 Mcardle, 7 Tarui) Dx- clinical + muscle biopsy for enzyme/DNA

Question 31

Hepatic Glycogen Storage disorders,

Answer 31

``` Ia Von Gierke, - glucose 6-phosphatase Ib - glucose 6-phosphatase transporter 3 Cori/Forbes - debrancher enzyme 4 Andersen - branching enzyme 5 Hers - liver phosphorylase/phosphorylase kinase ```

Question 32

Muscle Glycogen Storage Disorder

Answer 32

2 Pompe - alpha glucosidase (acid maltase) 5 McArdle - muscle phosphorylase 7 Tarui - muscle phosphofructokinase

Question 33

renal disease + bleeding diathesis + lactic acidosis + hyperuricemia + hypertriGlycerdiemia (like hepato-renal syndrome)

Answer 33

Ia Von Gierke, - glucose 6-phosphatase deficiency

Question 34

renal disease + bleeding diathesis + lactic acidosis + hyperuricemia + hypertriGlycerdiemia (like hepato-renal syndrome) + MUCOSAL ULCERATION (oral, intestinal, vaginal) Neutropenia

Answer 34

Ib - glucose 6-phosphatase transporter deficiency

Question 35

GSD 1 (Ia and I b) more severe presentation because

Answer 35

GSD 1 patients cannot get protein

Question 36

skeletal myopathy, cardiomyopathy, hyperlipidemia, elevated transaminases

Answer 36

3 Cori/Forbes - debrancher enzyme deficiency | Can be 4 Andersen - branching enzyme deficiency or 5 Hers - liver phosphorylase/phosphorylase kinase deficiency

Question 37

severe failure to thrive. Progressive cirrhosis

Answer 37

4 Andersen - branching enzyme deficiency

Question 38

skeletal myopathy, cardiomyopathy, hyperlipidemia, elevated transaminases hypoglycemia may not be present

Answer 38

5 Hers - liver phosphorylase/phosphorylase kinase deficiency | some forms X linked

Question 39

progressive muscle weakness, hypotonia, cardiomyopathy,

Answer 39

2 Pompe - alpha glucosidase (acid maltase) deficiency. - Lysosomal storage disease - fatal infantile --> slow progressive - Rx enzyme replacement therapy

Question 40

``` muscle pain + cramping, exercise intolerance progressive weakness Rhabdomyolysis No lactate w/exercise ```

Answer 40

5 McArdle - muscle phosphorylase deficiency

Question 41

earlier onset + more severe (muscle pain, cramping, weakness, rhabdomyolysis) compensated hemolytic anemia,

Answer 41

7 Tarui - muscle phosphofructokinase Exercise intolerance worse after high carbohydrate meal

Question 42

severe hypoglycemia + liver disease + lactic acidosis in infancy

Answer 42

GSD 1

Question 43

don't need the carnitine transport system

Answer 43

Medium Chain triglycerides (MCT oil)

Question 44

Hypoglycemia + Non-Ketotic + presents after fasting + liver disease + mild hyperamonemia

Answer 44

Medium Chain Acyl CoA Dehydrogenase Deficiency MCADD | - Caucasians - sudden death -

Question 45

Hypoglycemia + Non-Ketotic + presents after fasting + liver disease + mild hyperamonemia + CARDIOMYOPATHY + RHABDOMYOLYSIS (teens) + RETINOPATHY

Answer 45

Long chain disorders enzyme deficiencies - Carnitine Palmitoyl Transferase type 1 (CPT1 Def.) - Long Chain 3-hydroxy-Acyl CoA Dehydrogenase (LCHAD Def) - Very long Chain Acyl CoA Dehydrogenase (VLCAD Def) - Carnitine transporter def. (primary carnitine def.) - Carnitine Acylcarnitine Transferase (CACT def.)

Question 46

Long Chain Fatty acid disorders Rx

Answer 46

1. Avoid fasting 2. Carnitine (if low) - esp in CTD 3. Low fat diet 4. MCT oil

Question 47

Medium Chain Acyl CoA Dehydrogenase Deficiency MCADD Rx

Answer 47

1. fasting avoidance (especially during illness) 2. low fat diet (glucose + butter) - Cant give MCT oil.