Important Diseases

Question 1

Chronic hemolytic anemia, most common enzyme defect in glycolysis

Answer 1

PYRUVATE KINASE DEFICIENCY

Final step in Glycolysis

PEP –> Pyruvate + ATP

Question 2

Congenital lactic acidosis, X-linked dominant condition

Answer 2

PYRUVATE DEHYDROGENASE DEFICIENCY

Pyruvate —> Acetyl CoA

Question 3

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

Answer 3

LACTOSE INTOLERANCE

Lactase deficiency

Question 4

Severe fasting hypoglycemia, hepatomegaly, elevated glycogen in liver

Answer 4

VON GIERKE DISEASE

Glucose 6-Phosphatase Deficiency

Glucose cannot escape liver

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 deficiency

Question 7

Myoglobinuria with strenuous exercise

Answer 7

McARDLE SYNDROME

Skeletal Muscle Glycogen Phosphorylase Deficiency

Question 8

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

Answer 8

GLUCOSE-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 1P Uridyltransferase Deficiency (GALT)

Question 11

Galactosemia, galactosuria, cataracts in early childhood

Answer 11

GALACTOKINASE DEFICIENCY (GALK)

Question 12

Essential fructosuria

Answer 12

FRUCTOKINASE DEFICIENCY

Question 13

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

Answer 13

HEREDITARY FRUCTOSE INTOLERANCE

Aldolase B Deficiency

Avoid sucrose and fructose containing food

Sucrose = Glucose + Fructose

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 neurodenegerative 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 β-globin chain, causing hemoglobin that polymerizes inside the RBC

Question 17

Synthesis of α-chains is decreased or absent.

Sysmptomatic at birth.

Answer 17

ALPHA THALASSEMIA

Question 18

Synthesis of β-chains is decreased or absent.

Symptomatic 5-6months old.

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

Type I Collagen disorder

Question 21

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

Answer 21

EHLERS-DANLOS SYNDROME

Type III Collagen disorder

Question 22

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

Answer 22

SCURVY

Vitamin C deficiency

Question 23

The skin breaks and blisters as a result of minor trauma

Answer 23

EPIDERMOLYSIS BULLOSA DYSTROPHICA

Type VII Collagen disorder

Question 24

Hereditary nephritis with sensorineural hearing loss

Answer 24

ALPORT SYNDROME

Type IV collagen deficiency

Question 25

Aortic dilatation, dolichostenomelia, arachnodactyly, upward lens displacement

Answer 25

MARFAN SYNDROME Fibrillin-1 deficiency

Question 26

Panacinar emphysema and liver failure

Answer 26

α-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 Cofactor: Tetrahydrobiopterin Mgt: dec Phe, inc. Tyr

Question 30

Decreased pigmentation that increases risk for skin cancer

Answer 30

ALBINISM Tyrosinase deficiency Unable to produce Melanin

Question 31

Atherosclerosis, lens subluxation (downward), stroke, myocardial infarction, osteoporosis, tall stature

Answer 31

HOMOCYSTINURIA

Question 32

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

Answer 32

CYSTINURIA

Question 33

Mental retardation from blocked degradation of branched-chain amino acids

Answer 33

MAPLE SYRUP URINE DISEASE alpha-ketoacid dehyfrogenase deficiency (5 cofactors) accumulation of branched amino acids V I L

Question 34

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

Answer 34

METHYLMALONIC ACIDEMIA / ACIDURIA Methylmalonyl CoA Mutase Deficiency

Question 35

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

Answer 35

ACUTE INTERMITTENT PORPHYRIA Uroporphyrinogen I Synthase Deficiency

Question 36

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

Answer 36

PORPYHYRIA CUTANEA TARDA Uroporphyrinogen Decarboxylase Deficiency

Question 37

Severe congenital jaundice with brain damage

Answer 37

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

Question 38

Conjugated hyperbilirubinemia discovered by a Filipino

Answer 38

ROTOR SYNDROME

Question 39

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

Answer 39

KWASHIORKOR

Question 40

Caloric deprivation is relatively greater than the reduction in protein

Answer 40

MARASMUS

Question 41

Condition marked by increased protein catabolism

Answer 41

CACHEXIA

Question 42

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

Answer 42

STEATORRHEA

Question 43

Alcohol leads to fat accumulation in the liver. d/t inc. in NADH

Answer 43

FATTY LIVER

Question 44

Cerebrohepatorenal syndrome due to absence of peroxisomes

Answer 44

ZELLWEGER SYNDROME

Question 45

Defect in peroxisomal activation of VLCFA leads to accumulation of VLCFA in the blood and tissues

Answer 45

ADRENOLEUKODYSTROPHY

Question 46

Most common inborn error of beta oxidation, sudden infant death syndrome

Answer 46

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

Question 47

Accumulation of phytanic acid

Answer 47

REFSUM DISEASE

Question 48

Hypoglycin from unripe fruit of the akee tree inactivates medium- and short-chain acyl CoA dehydrogenase

Answer 48

JAMAICAN VOMITING SICKNESS

Question 49

Excess TAGs and chylomicrons in blood leads to deposition in liver, skin, pancreas

Answer 49

FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY (Type I)

Question 50

Elevated LDL cholesterol with increased risk for atherosclerosis and coronary artery disease

Answer 50

FAMILIAL HYPERCHOLESTEROLEMIA (Type IIa)

Question 51

Dyslipoproteinemia that is beneficial to health and longevity

Answer 51

FAMILIAL HYPERALPHALIPOPROTEINEMIA

Question 52

Accumulation of fat in intestinal enterocytes and hepatocytes, with deficiency in fat-soluble vitamins and essential fatty acids

Answer 52

ABETALIPOPROTEINEMIA

Question 53

Failure to thrive, salt-wasting, hypoglycemia, ambiguous genitalia

Answer 53

CONGENITAL ADRENAL HYPERPLASIA

Question 54

Low plasma cholesterol, elevated 7DHC, dysmorphic facial features, microcephaly, mental retardation, congenital heart disease, other malformations, often stillborn

Answer 54

SMITH-LEMLI-OPITZ SYNDROME 7-Dehydrocholesterol Reductase Deficiency

Question 55

Mental retardation, cherry-red spot on macula, lysosomes with onion skin, (but no hepatosplenomegaly) from accumulation of GM2 ganglioside

Answer 55

TAY-SACHS DISEASE

Question 56

Mental retardation, aseptic necrosis of femur, enlarged liver and spleen from accumulation of glucosyl-ceramide

Answer 56

GAUCHER DISEASE

Question 57

Mental retardation, enlarged liver and spleen, cherry red spot on macula, foam cells from accumulation of sphingomyelin

Answer 57

NIEMANN-PICK DISEASE

Question 58

Accumulation of dermatan sulfate and heparin sulfate that leads to mental retardation, coarse facial features, but with NO corneal clouding

Answer 58

HUNTER SYNDROME

Question 59

Accumulation of GAGs that results in skeletal dysplasia, short stature, but with no CNS involvement

Answer 59

MORQUIO SYNDROME

Question 60

Severe mental retardation, coarse facial features, and skeletal abnormalities from accumulation of partially degraded glycoproteins in lysosomes

Answer 60

I-CELL DISEASE

Question 61

Acute arthritis with deposition of uric acid crystals

Answer 61

GOUT

Question 62

Gout and self-mutilation

Answer 62

LESCH-NYHAN SYNDROME HGPRT Deficiency

Question 63

Glycogen storage disease associated with gout

Answer 63

VON GIERKE DISEASE Glucose-6-Phosphatase Deficiency

Question 64

Severe combined immunodeficiency

Answer 64

ADENOSINE DEAMINASE DEFICIENCY

Question 65

Abnormal growth, megaloblastic anemia, orotate in urine

Answer 65

OROTIC ACIDURIA