Biochemistry-->Quiz 2 Ailments

Front 1

Cystic fibrosis

Back 1

Protein digestion disorder
Mucus blocks pancreatic ducts to release enzymes
Loss of digestive proteases-->malabsorption and Malnutrition

Front 2

Chronic Pancreatitis

Back 2

Protein digestion disorder
Pancreatic cells destroyed and can't release enzymes
loss of digestive proteases-->malabsorption and malnutrition

Front 3

Hyperammonemia

Back 3

Deficiency in Urea cycle, causing excess NH3 in the blood-can cause nerve damage

Front 4

Hereditary(primary) Hyperammonemia

Back 4

Enzymes in Urea cycle are defective

Front 5

Aquired(secondary) Hyperammonemia

Back 5

Due to Hepatic failure(hepatitis, cirrhosis). Hepatocytes can't carry out urea. When this happens AST ALT are high in the urine.

Front 6

Asparagine is required for growth of which cells to divide fast?

Back 6

Leukemic cells-->Asparaginase is an antileukemic drug

Front 7

Histidinemia

Back 7

Deficiency in histidase-stops degradation of histadine to a-ketogluterate. Excess FIGlu in urine=folate deficiency

Front 8

Tyrosinemia Type I

Back 8

Deficiency of fumaryl acetoacetate hydrolase. Fumarate can't be formed neither acetoacetate. Excess fumarylacetoacetate.
Succinyl acetone in urine-cabbage odor
liver failure and renal acidosis

Front 9

Albinism

Back 9

Tyronase deficiency-->can't produce Melanin and excess Tyrosine.
White skin, hair, bad eyesight

Front 10

Phenylketonuria (PKU)

Back 10

Phenylalanine hydroxylase deficiency-->can't convert Phe into Tyr
Neurological problems, albinism

Front 11

Alkaptonuria

Back 11

Homogentisic acid oxidase deficiency -tyrosine degradation pathway
Homogenistic acid accumulates in urine and tissues
black pigmentation in eyes, iv disks, and oxidation of blood quickly

Front 12

Homocystinuria

Back 12

Deficiency of cystathionine synthase-->homocysteine excess, methionine excess, lack of cysteine
mental retardation, osteoporosis and myocardial infarction

Front 13

Maple Syrup Urine Disease

Back 13

Deficient in branched chain AA-Leucine, Isoleucine, Valine and
a-keto acid dehydroginase
keto acids accumulate in urine causing maple syrup odor
causes neurological problems

Front 14

Lack of Tryptophan and Niacin

Back 14

Pellagra: 4 D's diarrhea, dermatitis, dementia, death(if untreated)

Front 15

Hurlers Syndrome (MPS I)

Back 15

Deficient lysosomal degradation of GAG.
a-liduronidase deficiency
Degradation of Heparan Sulfate and Dermatan Sulfate
Corneal clouding, mental retardation, Dwarfing

Front 16

Hunters Syndrome (MPS II)

Back 16

Deficient Lysosomal degradation of GAG.
Iduronate Sulfatase deficiency
Degradation of Heparan Sulfate and Dermatan sulfate
Physical deformity, mental retardation

Front 17

I-Cell Disease

Back 17

Glycoprotein Degradation issue-
Mannose is not phosphorylated on the lysosomal enzyme which causes it not to be delivered to lysosome.
No digestion of macromolecules.
Skeletal abnormalities, restricted joint movement, coarse facial features

Front 18

Tay-Sachs Disease

Back 18

Degradation of glycolipids disorder.
Deficient in beta-hexosaminidase A
Excess GM2 Gangliosides
Neurodegeneration, muscular weakness, cherry red macula
blindness

Front 19

Gauchers Disease

Back 19

Degradation of Glycolipid disorder
Deficient in glucocerebrosidase.
Excess glucocerebrosides
Hepatosplenomegly, osteoporosis

Front 20

Sorbitol in uncontrolled Diabetes

Back 20

Blood is hyperglycemic which causes excess sorbitol(too much glucose in blood). Cells can't convert sorbitol into fructose.
Excess sorbitol-causes cell swelling by H2O
Neuropathy, nephropathy, cataracts, retinopathy

Front 21

Hemolytic Anemia

Back 21

In Glycolysis--> Pyruvate Kinase deficiency.
Excess PEP can't make pyruvate
No TCA cycle, glucose only from glycolysis. RBC get hard and rigid-destroyed by macrophages