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1. CC 1 Midterms > AMINO ACIDS AND AMINOACIDOPATHIES > Flashcards

AMINO ACIDS AND AMINOACIDOPATHIES Flashcards

1
Q

Amino acids are linked together by

A

peptide bonds/amide linkage.

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2
Q

Formation is through dehydration synthesis/condensation.

A

Amino acids

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3
Q

Interaction between COOH of one molecule reacts with the NH2 of the other molecule, releasing H2O forming amide.

A

Amino acids

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4
Q

make amino acids differ from one another.

A

R- chains

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5
Q

dietary source (not produced by the body)

A

Essential amino acids-

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6
Q

produced by the body.

A

Non-essential amino acids-

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7
Q

11 non-essential AA

C A4 G3 PST

A

Alanine
Arginine
Asparagine
Aspartic Acid
Cysteine
Glutamic Acid
Glutamine
Glycine
Proline
Serine
Tyrosine

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8
Q

Essential AA

HILL MP T2V

A

Histidine
Isoleucine
Leucine
Lysine
Methionine
Phenylalanine
Threonine
Tryptophan
Valine

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9
Q

21st AA named in 2002
Encoded in UGA (stop codon)

A

Selenocysteine (Sec)

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10
Q

Selenium analogue of cysteine and found in enzymes formate dehydrogenases, glycine reductases and some hydrogenases.
Low level is found in HIV infected.

A

Selenocysteine (Sec)

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11
Q

22nd AA (2002) not present in human.

A

Pyrrolysine (Pyl)

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12
Q

Found in bacteria and archaea specifically the enzymes for methane-producing metabolism.
Encoded by the UAG (stop codon)

A

Pyrrolysine (Pyl)

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13
Q

Inherited errors of metabolism due genetic mutation.

A

Aminoacidopathies

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14
Q

Excessive amino acids result to toxicity to

A

brain, blood and tissues.

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15
Q

used for early diagnosis and management. Confirmatory are mass spectrometry and molecular technique.

A

Newborn screening tests (NBS)

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16
Q

What are the Aminoacidopathies

A

Phenylketonuria
Tyrosinemia
Alkaptonuria
Maple Syrup Urine Disease
Isovaleric Acidemia
Homocystinuria
Citrullinemia
Argininosuccinic Aciduria
Cystinuria

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17
Q

Mutations in the PAH gene that result to defect in phenylalanine hydroxylase (PAH) enzyme reduction.

A

Phenylketonuria (PKU)

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18
Q

PAH catalyzes the conversion of phenylalanine to ____.

A

tyrosine

19
Q

PAH gene defect

A

Phenylalanine Hydrolase

20
Q

excreted in the urine giving characteristic “musty” or “mousy” odor.

A

Phenylketonuria (PKU)

21
Q

Phenylketonuria (PKU) Screening test

A

Guthrie test

22
Q

Inhibitor of Guthrie test

A

B-2-thienylalanine

23
Q

Types of Tyrosinemia gene mutation and defect in
Type 1
Type 2
Type 3

A

FAH - Fumarylacetoacetate hydrolase
TAT - Tyrosine aminotransferase
HPD - 4-hydroxyphenylpyruvate dioxygenase

24
Q

Alkaptonuria gene mutation lead to the deficiency of ?

A

Homogentisate oxidase

25
Q

In the urine it produces brownish-black color when exposed in the air.

A

Alkaptonuria

26
Q

Alkaptonuria
screening test

A

Ferric Chloride Test (turns balck when positive)

27
Q

MSUD gene mutation lead to absence or low

A

BCKDHA
BCKDHB
DBT

28
Q

MSUD enzyme

A

Branched-chain-a-ketoacid decarboxylase

29
Q

BCKD enzymes are responsible for ___, _____, and _____ metabolism. These are branched chain amino acids.

A

leucine, isoleucine, and valine

30
Q

In the urine it gives characteristic “maple syrup” or “burnt sugar” odor.

A

Maple syrup urine disease (MSUD)

31
Q

Maple syrup urine disease (MSUD)
screening test

A

Modified Guthrie test (4-azaleucine used as inhibitor)

32
Q

IVD gene mutation result to deficiency in isovaleryl-CoA dehydrogenase (IVD) which metabolize of leucine.

A

Isovaleric acidemia (IVA)

33
Q

Sweaty feet odor of urine is distinctive characteristic.

A

Isovaleric acidemia (IVA)

34
Q

Isovaleric acidemia (IVA) gene mutation

A

Isovaleryl-CoA dehydrogenase

35
Q

CBS gene mutation (most common) result to deficiency in cystathionine β synthase responsible for methionine metabolism.

A

Homocystinuria

36
Q

Elevated concentration of methionine and homocysteine (precursor) in blood and urine.

A

Homocystinuria

37
Q

Homocystinuria
Screening test:

A

Modified Guthrie Test (L-methionine sulfoximine used as inhibitor)

38
Q

Homocystinuria gene mutation

A

Cystathionine B synthase

39
Q

Urea Cycle disorders

A

Citrullinemia

40
Q

Citrullinemia Types

Type I
Type II

A

ASS1 gene mutation (argininosuccinic acid synthetase deficiency)
SLC25A13 gene mutation (Citrin deficiency)

41
Q

Argininosuccinic Aciduria
gene mutation

A

Argininosuccinic acid lyase

42
Q

Elevated level of ammonia in the blood.

A

Argininosuccinic Aciduria

43
Q

SLC3A1 and SLC7A9 genes mutation codes for the production of protein the kidney responsible for reabsorption of cystine.

A

Cystinuria

1. CC 1 Midterms (14 decks)

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