Disorders of Metabolism

Question 1

Hunter Syndrome

Answer 1

X-linked recessive

Question 2

Fabry Syndrome

Answer 2

X-linked recessive

Question 3

ALD

Answer 3

X-linked recessive

Question 4

OTC deficiency

Answer 4

X-linked recessive

Question 5

CAIS/PAIS

Answer 5

X-linked recessive

Question 6

Elevated HGA

Answer 6

AKU

Question 7

HGO Mutated homogentisate 1,2-dioxygenase

Answer 7

AKU

Question 8

Black urine disease

Answer 8

AKU

Question 9

AKU

Answer 9

autosomal recessive

Question 10

Hyperphenylalanemia

Answer 10

PKU

Question 11

PHA: phenylalanine hydroxylase deficiency

Answer 11

PKU

Question 12

Tetrahydrobiopterin or dohydrobiopterin reductase deficiencies

Answer 12

PKU

Question 13

PKU

Answer 13

autosomal recessive

Question 14

FAH: fumarylacetoacetate hydrolase deficiency

Answer 14

Hereditary Tyrosinemia type 1

Question 15

Fumarylacetoacetate accumulation

Answer 15

Hereditary Tyrosinemia type 1

Question 16

oculocutaneous albinoism

Answer 16

tyrosine metabolic mutation

Question 17

HT2 and HT3

Answer 17

tyrosine metabolic mutation

Question 18

Deficiency of branched-chain alpha-ketoacid dehydrogenase (BCKAD)

Answer 18

Maple Syrup Urine Disease

Question 19

Restrict Valine, Leucine, Isoleucine

Answer 19

Maple Syrup Urine Disease

Question 20

Accumulation of valine, leucine, and isoleucine

Answer 20

Maple Syrup Urine Disease

Question 21

GAL-1-P uridyl transferase enzyme deficiency

Answer 21

Galactosemia

Question 22

Galactokinase or uridine diphosphate galactose-4-epimerase deficiency

Answer 22

Galactosemia

Question 23

Restrict lactose and galactose

Answer 23

Galactosemia

Question 24

Fructokinase deficiency

Answer 24

Asymptomatic Fructosuria

Question 25

Glycogen storage disorders

Answer 25

Pompe’s Disease or G6PD deficiency

Question 26

Pompe’s Disease or G6PD deficiency affect which organs

Answer 26

liver and skeletal muscle

Question 27

Fatty Acid Oxidation

Answer 27

Medium-chain acyl coenzyme A dehydrogenase MCAD deficiency

Question 28

Recurrent hypoglycemia with fasting

Answer 28

Medium-chain acyl coenzyme A dehydrogenase MCAD deficiency

Question 29

elevated acyl-carnitines

Answer 29

Medium-chain acyl coenzyme A dehydrogenase MCAD deficiency

Question 30

Smith-Lenmli-Opitz Syndrome

Answer 30

Autosomal recessive cholesterol enzyme defect

Question 31

Overproduction of cortisol precursors, excess adrenal androgens and aldosterone deficiency

Answer 31

Congenital Adrenal Hyperplasia (CAH)

Question 32

Mutations in CYP21A2 21-hydroxylase (cytochrome 450)

Answer 32

Congenital Adrenal Hyperplasia (CAH)

Question 33

expressed in adrenal cortex, producing cortisol and aldosterone

Answer 33

Congenital Adrenal Hyperplasia (CAH)

Question 34

ambiguous genitalia

Answer 34

Congenital Adrenal Hyperplasia (CAH)

Question 35

Congenital Adrenal Hyperplasia (CAH)

Answer 35

Gene conversions b/w non-sister chromatids, deleterious mutation overrepresented – heterozygous autosomal recessive

Question 36

Complete or Partial Androgen Insensitivity Syndrome

Answer 36

Steroid receptor disease: X-linked recessive mutation in androgen receptor gene

Question 37

reduced ability to degrade GAGs

Answer 37

Mucopolysaccharidoses

Question 38

Hunter and Fabry

Answer 38

x-linked recessive

Question 39

Fabry, Gaucher, Pompe, Krabbe, and Niemann-Pick

Answer 39

now on IL newborn screen (lysosomal storage)

Question 40

Sphingolipidoses

Answer 40

Gaucher’s and Tay-sachs

Question 41

CNS effects due to accumulation of GM2 gangliosides

Answer 41

Tay-sachs

Question 42

Glucosylceramide accumulation due to glucocerebrosidase deficiency

Answer 42

Gaucher’s

Question 43

Zellweger syndrome

Answer 43

Peroxisome Biogensis Disorder

Question 44

neonatal adrenoleukodystophy

Answer 44

Peroxisome Biogensis Disorder

Question 45

infantile Refsum disease

Answer 45

Peroxisome Biogensis Disorder

Question 46

rhizomelic chondrodysplasia punctate type 1

Answer 46

Peroxisome Biogensis Disorder

Question 47

X-linked adrenoleukodystophy (ALD)

Answer 47

Peroxisomal Enzyme deficiency

Question 48

Hyperammonemia

Answer 48

increased glutamine and nitrogen waste

Question 49

Ornithine transcarbamylase (OTC)

Answer 49

X-linked urea disorder

Question 50

Iron transport deficiency

Answer 50

hemochromatosis

Question 51

Coper transport deficiency

Answer 51

Menkes and Wilsons disease

Question 52

Zinc transport deficiency

Answer 52

Acrodematitis enteropathica