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BIOCHEM (Topnotch) > Important Diseases > Flashcards

Important Diseases Flashcards

1
Q

Chronic hemolytic anemia, most common enzyme defect in glycolysis

A

PYRUVATE KINASE DEFICIENCY

Final step in Glycolysis

PEP –> Pyruvate + ATP

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2
Q

Congenital lactic acidosis, X-linked dominant condition

A

PYRUVATE DEHYDROGENASE DEFICIENCY

Pyruvate —> Acetyl CoA

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3
Q

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

A

LACTOSE INTOLERANCE

Lactase deficiency

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4
Q

Severe fasting hypoglycemia, hepatomegaly, elevated glycogen in liver

A

VON GIERKE DISEASE

Glucose 6-Phosphatase Deficiency

Glucose cannot escape liver

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5
Q

Cardiomegaly and heart failure from impaired glycogen metabolism

A

POMPE DISEASE

Lysosomal Acid Maltase Deficiency

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6
Q

Hepatomegaly, milder form of Von Gierke disease

A

CORI DISEASE

Debranching enzyme deficiency

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7
Q

Myoglobinuria with strenuous exercise

A

McARDLE SYNDROME

Skeletal Muscle Glycogen Phosphorylase Deficiency

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8
Q

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

A

GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY

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9
Q

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

A

CHRONIC GRANULOMATOUS DISEASE

NADPH Oxidase Deficiency

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10
Q

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

A

CLASSIC GALACTOSEMIA

Galactose 1P Uridyltransferase Deficiency (GALT)

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11
Q

Galactosemia, galactosuria, cataracts in early childhood

A

GALACTOKINASE DEFICIENCY (GALK)

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12
Q

Essential fructosuria

A

FRUCTOKINASE DEFICIENCY

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13
Q

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

A

HEREDITARY FRUCTOSE INTOLERANCE

Aldolase B Deficiency

Avoid sucrose and fructose containing food

Sucrose = Glucose + Fructose

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14
Q

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

A

ALZHEIMER DISEASE

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15
Q

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

A

PRION DISEASES

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16
Q

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

A
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17
Q

Synthesis of α-chains is decreased or absent.

Sysmptomatic at birth.

A

ALPHA THALASSEMIA

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18
Q

Synthesis of β-chains is decreased or absent.

Symptomatic 5-6months old.

A

BETA THALASSEMIA

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19
Q

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

A

HEREDITARY SPHEROCYTOSIS

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20
Q

Blue sclerae, multiple fractures, conductive hearing loss

A

OSTEOGENESIS IMPERFECTA

Type I Collagen disorder

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21
Q

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

A

EHLERS-DANLOS SYNDROME

Type III Collagen disorder

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22
Q

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

A

SCURVY

Vitamin C deficiency

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23
Q

The skin breaks and blisters as a result of minor trauma

A

EPIDERMOLYSIS BULLOSA DYSTROPHICA

Type VII Collagen disorder

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24
Q

Hereditary nephritis with sensorineural hearing loss

A

ALPORT SYNDROME

Type IV collagen deficiency

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25
Q

Aortic dilatation, dolichostenomelia, arachnodactyly, upward lens displacement

A

MARFAN SYNDROME

Fibrillin-1 deficiency

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26
Q

Panacinar emphysema and liver failure

A

α-1 ANTITRYPSIN DEFICIENCY

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27
Q

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

A

WILSON DISEASE

28
Q

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

A

MENKES DISEASE

29
Q

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

A

PHENYLKETONURIA

Phenylalanine Hydroxylase Deficiency

Cofactor: Tetrahydrobiopterin

Mgt: dec Phe, inc. Tyr

30
Q

Decreased pigmentation that increases risk for skin cancer

A

ALBINISM

Tyrosinase deficiency

Unable to produce Melanin

31
Q

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

A

HOMOCYSTINURIA

32
Q

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

A

CYSTINURIA

33
Q

Mental retardation from blocked degradation of branched-chain amino acids

A

MAPLE SYRUP URINE DISEASE

alpha-ketoacid dehyfrogenase deficiency (5 cofactors)

accumulation of branched amino acids V I L

34
Q

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

A

METHYLMALONIC ACIDEMIA / ACIDURIA

Methylmalonyl CoA Mutase Deficiency

35
Q

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

A

ACUTE INTERMITTENT PORPHYRIA

Uroporphyrinogen I Synthase Deficiency

36
Q

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

A

PORPYHYRIA CUTANEA TARDA

Uroporphyrinogen Decarboxylase Deficiency

37
Q

Severe congenital jaundice with brain damage

A

TYPE I CRIGLER-NAJJAR SYNDROME

Complete absence of hepatic UDP-glucuronosyl transferase

38
Q

Conjugated hyperbilirubinemia discovered by a Filipino

A

ROTOR SYNDROME

39
Q

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

A

KWASHIORKOR

40
Q

Caloric deprivation is relatively greater than the reduction in protein

A

MARASMUS

41
Q

Condition marked by increased protein catabolism

A

CACHEXIA

42
Q

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

A

STEATORRHEA

43
Q

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

A

FATTY LIVER

44
Q

Cerebrohepatorenal syndrome due to absence of peroxisomes

A

ZELLWEGER SYNDROME

45
Q

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

A

ADRENOLEUKODYSTROPHY

46
Q

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

A

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

47
Q

Accumulation of phytanic acid

A

REFSUM DISEASE

48
Q

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

A

JAMAICAN VOMITING SICKNESS

49
Q

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

A

FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY (Type I)

50
Q

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

A

FAMILIAL HYPERCHOLESTEROLEMIA (Type IIa)

51
Q

Dyslipoproteinemia that is beneficial to health and longevity

A

FAMILIAL HYPERALPHALIPOPROTEINEMIA

52
Q

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

A

ABETALIPOPROTEINEMIA

53
Q

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

A

CONGENITAL ADRENAL HYPERPLASIA

54
Q

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

A

SMITH-LEMLI-OPITZ SYNDROME

7-Dehydrocholesterol Reductase Deficiency

55
Q

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

A

TAY-SACHS DISEASE

56
Q

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

A

GAUCHER DISEASE

57
Q

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

A

NIEMANN-PICK DISEASE

58
Q

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

A

HUNTER SYNDROME

59
Q

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

A

MORQUIO SYNDROME

60
Q

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

A

I-CELL DISEASE

61
Q

Acute arthritis with deposition of uric acid crystals

A

GOUT

62
Q

Gout and self-mutilation

A

LESCH-NYHAN SYNDROME

HGPRT Deficiency

63
Q

Glycogen storage disease associated with gout

A

VON GIERKE DISEASE

Glucose-6-Phosphatase Deficiency

64
Q

Severe combined immunodeficiency

A

ADENOSINE DEAMINASE DEFICIENCY

65
Q

Abnormal growth, megaloblastic anemia, orotate in urine

A

OROTIC ACIDURIA

66
Q
A
67
Q
A

BIOCHEM (Topnotch) (8 decks)

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