Most things Metabolic

Question 1

Amino Acidemias
Typical Onset & Presentation

Answer 1

Typical Onset: within first few months of life
Variable; DD/ID, seizures, lethargy, poor feeding, vomiting, certain odors*

Question 2

Amino Acidemias
Biochemical presentation & Key Tests

Answer 2

Biochemical presentation: elevated amino acids
Key tests: serum amino acids

Question 3

Organic Acidemias
Typical Onset & Presentation

Answer 3

Neonatal period
lethargy, poor feeding, respiratory problems, hypoglycemia (seizures), hypotonia, and vomitting

Question 4

Organic Acidemias
Biochemical presentation & key tests

Answer 4

Hyperammonemia, metabolic acidosis, urine ketones, pancytopenia
Key tests: acylcarintine profile, urine organic acids

Question 5

Urea Cycle Disorders
Typical onset and presentation

Answer 5

neonatal period
lethargy, poor feeding, vomiting, seizures, coma

Question 6

Urea Cycle disorders
Biochemical presentation & key tests

Answer 6

hyperammonemia, respiratory alkalosis, NO URINE KETONES or PANCYTOPENIA
key tests: ammonia, serum amino acids, urine orotic acid

Question 7

Lysosomal Storage
typical onset and presentation

Answer 7

infancy to adulthood
progressively coarsening features, hepatosplenomegaly, skeletal abnormalites

Question 8

Lysosomal storage
biochemical and key tests

Answer 8

reduced enzyme activity
enyzme assaty

Question 9

Fatty Acid Oxidation
Typical onset & presentation

Answer 9

neonatal period
Lethargy, vomiting, cardiomyopathy, skeletal myopathy, sudden death*

Question 10

Fatty Oxidation
Biochemical and key tests

Answer 10

Hypoglycemia and low ketones
acylcarnitine profile and blood glucose

Question 11

Peroxisomal disorders
Typical onset and presentation

Answer 11

infancy to adulthood
dysmorphic features, hypotonia, liver disease, seizures, ID, cataracts

Question 12

Peroxisomal disorders
biochemical and key tests

Answer 12

Elevated VLCFAs
Acylcarnitine profile

Question 13

Key feature in Isovaleric Academia
Gene + MOI

Answer 13

Smelly feet odor in acute crisis
IVD

Question 14

Problem and the Management for Isovaleric Academia

Answer 14

problem: problems breaking down leucine
manage with leucine restricted diet (MEATS)

Question 15

X linked organic acidemia; gene

Answer 15

Lesch-Nyhan; HPRT1

Question 16

Features of Lesch-Nyhan and biochemical finding

Answer 16

Self-injury, DD/ID, renal stones / failure, gout like arthritis
Biochemical: excess URIC ACID in blood

Question 17

Methylmalonic Acidemnia; symptoms

Answer 17

prevent the body from breaking down proteins and fats (lipids) properly

vomiting, dehydration, hypotonia, DD, lethargy, an hepatomegaly, and FTD

B12 non-responsive is most severe and earlier onset; B12 responsive is less severe

Question 18

Main gene and MOI of Methylmalonic Acidemia

Answer 18

MMUT, AR

Question 19

X-linked urea cycle disorder

Answer 19

Ornithine transcarbamylase (OTC) deficiency

Question 20

General feature of urea cycle disorders

Answer 20

hyperammonia

Question 21

Plasma amino acids for OTC Deficiency

Answer 21

low: citrulline, arginine
high: glutamine, orotic acid

Question 22

Forms of OTC deficiency

Answer 22

Severe neonatal: floppy; seizures
later onset partial deficiency; carrier females: altered mental status, headaches, vomiting, aversion to protein foods, and seizures

Question 23

Dietary treatment for Urea Cycle disorders

Answer 23

Low protein

Question 24

Treatment for Urea Cycle disorders

Answer 24

dialysis to lower ammonia, liver transplant; restrict protein diet

Question 25

General features of Fatty Acid Oxidation Disorders

Answer 25

Hypoglycemia and low ketones