Diseases

Question 1

Chronic hemolytic anemia, most common enzyme defect in glycolysis

Answer 1

PYRUVATE KINASE DEFICIENCY

Question 2

Congenital lactic acidosis, X-linked dominant condition

Answer 2

PYRUVATE DEHYDROGENASE DEFICIENCY

Question 3

Flatulence, cramps, and diarrhea after ingestion of dairy products.

Answer 3

LACTOSE INTOLERANCE

Question 4

Severe fasting hypoglycemia, hepatomegaly, elevated glycogen in liver

Answer 4

VON GIERXE DISEASE
Glucose 6- Phosf›hatase Deficiency

Question 5

Cardiomegaly and heart failure from impaired glycogen metabolism

Answer 5

POMPE DISEASE
Lysosomal Acid Maltase Deficiency

Question 6

Hepatomegaly, milder form of Von Gierke disease

Answer 6

CORI DISEASE
Debranching enzyme deicien

Question 7

Myoglobinuria with strenuous exercise

Answer 7

MCARDLE SYNDROME
Skeletal Muscle Glycogen PhosRhorylase Deficiency

Question 8

Decreased NADPH in RBCs leads to hemolytic anemia due to poor RBC defense against oxidizing agents

Answer 8

GLUOSE-6-
PHOSPHATE DEHYDROGENASE DEFICIENCY

Question 9

Recurrent pyogenic infections due to impairment of respiratory burst of neutrophils and monocytes

Answer 9

CHRONIC
GRANULOMATOUS
DISEASE
NADPH Oxidase Deficiency

Question 10

Cataracts within a few days of birth, vomiting and diarrhea after milk ingestion, lethargy, hypotonia, mental retardation

Answer 10

CLASSIC GALACTOSEMIA
Galactose lP Uridyltranserase De(iciency

Question 11

Galactosemia, galactosuria, cataracts in early childhood

Answer 11

GALACTOKINASE DEFICIENCY

Question 12

Essential fructosuria

Answer 12

FRUCTOKINASE DEFICIENCY

Question 13

Fructosuria, severe hypoglycemia, lactic acidosis, liver damage, jaundice

Answer 13

FRUCTOSE INTOLERANCE
Aldolase B Deficiency

Question 14

Progressive cognitive and behavioral impairment due to accumulation of amyloid plaques in the hippocampus and cerebral
cortex

Answer 14

ALZHEIMER DISEASE

Question 15

Fatal neurodegenerative diseases characterized by spongiform changes, astrocytic gliomas, and neuronal loss

Answer 15

PRION DISEASES

Question 16

Glutamate is replaced by valine at position 6 of the b-globin chain, causing hemoglobin that polymerizes inside the RBC

Answer 16

SICKLE CELL DISEASE

Question 17

Synthesis of a-chains is decreased or absent

Answer 17

ALPHA THALASSEMIA

Question 18

Synthesis of §-chains is decreased or absent

Answer 18

BETA THALASSEMIA

Question 19

Spectrin deficiency causes spherical RBCs that are rapidly culled by the spleen

Answer 19

HEREDITARY SPHEROCYTOSIS

Question 20

Blue sclerae, multiple fractures, conductive hearing loss

Answer 20

OSTEOGENESIS IMPERFECTA

Question 21

Berry aneurysms, hyperextensible skin, hypermobile joints, tendency to bleed

Answer 21

EHLERS-DANLOS SYNDROME

Question 22

Loose teeth, sore spongy gums, poor wound healing, petechiae on skin and mucous membranes

Answer 22

SCURVY

Question 23

The skin breaks and blisters as a result of minor trauma

Answer 23

EPIDERMOLYSIS BULLOSA DYSTROPHICA

Question 24

Hereditary nephritis with sensorineural hearing loss

Answer 24

ALPORT SYNDROME

Question 25

Aortic dilatation, dolichostenomelia, arachnodactyly

Answer 25

MARFAN SYNDROME

Question 26

Panacinar emphysema and liver failure

Answer 26

A-1 ANTITRYPSIN DEFICIENCY

Question 27

Hepatolenticular degeneration from accumulation of copper in tissues, with low levels of ceruloplasmin

Answer 27

WILSON DISEASE

Question 28

Impaired transfer of copper from intestinal mucosal cells to the blood leading to growth retardation, mental deficiency, and kinky hair

Answer 28

MENKES DISEASE

Question 29

Musty body odor, mental retardation, growth retardation, fair skin, eczema

Answer 29

PHENYLKETONURIA Phenylalanine Hydroxylase Deficiency

Question 30

Urine turns black upon standing with debilitating arthralgias

Answer 30

ALKAPTONURIA Homogentisate oxidase deficiency

Question 31

Decreased pigmentation that increases risk for skin cancer

Answer 31

ALBINISM

Question 32

Atherosclerosis, lens subluxation, stroke, myocardial infarction, osteoporosis, tall stature

Answer 32

HOMOCYSTINURIA

Question 33

Staghorn calculi due to inherited defect of renal tubular amino acid transporter

Answer 33

CYSTINURIA

Question 34

Mental retardation from blocked degradation of branched-chain amino acids

Answer 34

MAPLE SYRUP URINE DISEASE

Question 35

Metabolic acidosis, reduced blood flow leading to seizure, encephalopathy, and stroke in very young patients

Answer 35

METHYLMALONIC ACIDEMIA Methylmalonyl CoA Mutase Deficiency

Question 36

Photosensitivity, chronic inflammation to overt blistering and shearing in exposed areas of the skin due to defects in heme synthesis

Answer 36

PORPHYRIAS

Question 37

Abdominal pain and neuro- psychiatric symptoms from accumulation of ALA and PBG

Answer 37

ACUTE INTERMITTENT PORPHYRIA UroRorphyrinogen I Synthase Deicien

Question 38

Most common porphyria, presents with photosensitivity and urine that is red to brown in natural light due to uroporphyrins

Answer 38

PORPYHYRIA CUTANEA TARDA Uroporphyrinogen Decarboxylase Deficiency

Question 39

Severe congenital jaundice with brain damage

Answer 39

TYPE I CRIGLER- NAJJAR SYNDROME COmRlete absence of hepatic UDP- glucuronosyl transferase

Question 40

Conjugated hyperbilirubinemia discovered by a Filipino

Answer 40

ROTOR SYNDROME

Question 41

Protein deprivation that is relatively greater than the reduction in total calories

Answer 41

KWASHIORKOR

Question 42

Caloric deprivation is relatively greater than the reduction in protein

Answer 42

MARASMUS

Question 43

Condition marked by increased protein catabolism

Answer 43

CACHEXIA

Question 44

Lipid malabsorption resulting in increased lipids in feces and deficiency of essential fatty acids and fat-soluble vitamins

Answer 44

STEATORRHEA