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Biochemistry [COMPRE] > Diseases > Flashcards

Diseases Flashcards

1
Q

Chronic hemolytic anemia, most common enzyme defect in glycolysis

A

PYRUVATE KINASE DEFICIENCY

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2
Q

Congenital lactic acidosis, X-linked dominant condition

A

PYRUVATE DEHYDROGENASE DEFICIENCY

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3
Q

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

A

LACTOSE INTOLERANCE

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4
Q

Severe fasting hypoglycemia, hepatomegaly, elevated glycogen in liver

A

VON GIERXE DISEASE
Glucose 6- Phosf›hatase Deficiency

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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 deicien

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7
Q

Myoglobinuria with strenuous exercise

A

MCARDLE SYNDROME
Skeletal Muscle Glycogen PhosRhorylase Deficiency

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8
Q

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

A

GLUOSE-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 lP Uridyltranserase De(iciency

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11
Q

Galactosemia, galactosuria, cataracts in early childhood

A

GALACTOKINASE DEFICIENCY

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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

FRUCTOSE INTOLERANCE
Aldolase B Deficiency

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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 neurodegenerative 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 b-globin chain, causing hemoglobin that polymerizes inside the RBC

A

SICKLE CELL DISEASE

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17
Q

Synthesis of a-chains is decreased or absent

A

ALPHA THALASSEMIA

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18
Q

Synthesis of §-chains is decreased or absent

A

BETA THALASSEMIA

19
Q

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

A

HEREDITARY SPHEROCYTOSIS

20
Q

Blue sclerae, multiple fractures, conductive hearing loss

A

OSTEOGENESIS IMPERFECTA

21
Q

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

A

EHLERS-DANLOS SYNDROME

22
Q

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

A

SCURVY

23
Q

The skin breaks and blisters as a result of minor trauma

A

EPIDERMOLYSIS BULLOSA DYSTROPHICA

24
Q

Hereditary nephritis with sensorineural hearing loss

A

ALPORT SYNDROME

25
Q

Aortic dilatation, dolichostenomelia, arachnodactyly

A

MARFAN SYNDROME

26
Q

Panacinar emphysema and liver failure

A

A-1 ANTITRYPSIN DEFICIENCY

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

30
Q

Urine turns black upon standing with debilitating arthralgias

A

ALKAPTONURIA
Homogentisate oxidase deficiency

31
Q

Decreased pigmentation that increases risk for skin cancer

A

ALBINISM

32
Q

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

A

HOMOCYSTINURIA

33
Q

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

A

CYSTINURIA

34
Q

Mental retardation from blocked degradation of branched-chain amino acids

A

MAPLE SYRUP URINE DISEASE

35
Q

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

A

METHYLMALONIC
ACIDEMIA
Methylmalonyl CoA Mutase Deficiency

36
Q

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

A

PORPHYRIAS

37
Q

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

A

ACUTE
INTERMITTENT PORPHYRIA
UroRorphyrinogen I Synthase Deicien

38
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

39
Q

Severe congenital jaundice with brain damage

A

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

40
Q

Conjugated hyperbilirubinemia discovered by a Filipino

A

ROTOR SYNDROME

41
Q

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

A

KWASHIORKOR

42
Q

Caloric deprivation is relatively greater than the reduction in protein

A

MARASMUS

43
Q

Condition marked by increased protein catabolism

A

CACHEXIA

44
Q

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

A

STEATORRHEA

Biochemistry [COMPRE] (5 decks)

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