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SUM: Med 1 Biochem > AA Metabolism Diseases > Flashcards

AA Metabolism Diseases Flashcards

1
Q

Name 15 Amino Acid Metabolism Disorders

A
  1. PKU = Phenylketonuria (Classic)
  2. PKU (Malignant)
  3. PKU (Maternal)
  4. Alkaptonuria
  5. Maple Syrup Urine Disease
  6. Propionate CoA Carboxylase Deficiency
  7. Cystathioninuria
  8. Homocystinuria
  9. Histidinemia
  10. Albinism
  11. Tyrosinosis
  12. Nonketogenic Hyperglycinemia
  13. Hereditary Tyrosinemia
  14. Tyrosinemia 1
  15. Tyrosinemia 2
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2
Q

What does PKU stand for

A

Phenylketonuria

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3
Q

How many types of PKU disorders are there & name each one

A

3 total:
Classic Phenylketonuria
Malignant
Maternal

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4
Q

What AA is involved in PKU Phenylketonurial

A

Phenylalanine

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5
Q

Draw the structure of Phehylalanine

Provide 1st/3 letter abrev.

A

F-(Phe)

Confirm

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6
Q

What enzyme is affected in Classic Phenylketonuria

A

Phenylalanine Hydroxylase

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7
Q

Clinical manifestations of Classic Phenylketonuria

A
  1. Mental retardation
  2. Fair skin
  3. Mousy odor
  4. Congenital Pyloric Stenosis
  5. Screen after 1th exposure to phenylalanine in breast milk
  6. Restrict Phenylalanine intake
  7. Increase Tyrosene
  8. Inherited disorder
  9. Disorder increases Phenylalanine in the blood
  10. Phenylalanine is the building block of Proteins
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8
Q

Enzyme affected in Malignant PKU

A

Dihydrobiopterin Reductase/synthase

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9
Q

Clinical Manifestations of Malignant PKU

A
  1. Similar to Classic PKU
  2. Melatonin & Serotonin Synthesis also compromised
  3. To..restrict Phenylalanine
  4. Add Tyrosene
  5. L-DOPA
  6. 5-Hydroxytryptophan
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10
Q

Structure of Tyrosene

A

Tyrosene Structure __confirm once drawn

Y- (Tyr)

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11
Q

Define L-DOPA (3 points)

A
  1. Also known as levodopa or L-3,4-dihydroxyphenylalanine is an amino acid that is made and used as part of the normal biology of humans
  2. L-DOPA is the precursor to the neurotransmitters dopamine, norepinephrine (noradrenaline), and epinephrine (adrenaline), which are collectively known as catecholamines.
  3. L-DOPA itself mediates neurotrophic factor release by the brain and CNS
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12
Q

Define 5-Hydroxytryptophan

A

5-Hydroxytryptophan (5-HTP), also known as oxitriptan, is a naturally occurring amino acid and chemical precursor as well as a metabolic intermediate in the biosynthesis of the neurotransmitter serotonin.

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13
Q

Who is affected by Maternal PKU

A

Mother with either Classic or Malignant Phenylketonuria

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14
Q

Clinical manifestations of Maternal PKU

A
  1. Developmental abnormalities
  2. Microcephaly
  3. Mother who didn’t maintain strict dietary restrictions during pregnancy
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15
Q

Define Microcephaly

A

Microcephaly is a medical condition in which the brain does not develop properly resulting in a smaller than normal head.
[1] Microcephaly may be present at birth or it may develop in the first few years of life.
[1] Often people with the disorder have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures, and dwarfism.[1]

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16
Q

How can Tryptophan be obtained & through what sources

A

Tryptophan increases Serotonins levels
Serotonin plays a large role in mood, sleep, learning, and appetite control.

Low serotonin is widely believed to be a major cause of depression.
Foods: Turkey, Cheeze, nuts, pineapple

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17
Q

What AA is involved in Alkaptonuria

A

Tyrosine

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18
Q

What enzyme is affedcted in Alkapronuria

A

Homogentisic Acid or Homogentisate oxidase

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19
Q

Clinical Manifistations of Alkapronuria

A
  1. Dark Urine (caused by accumulation of homogentisate which forms polymers which darkens standing urine)
  2. Degenerative Arthiritis
  3. Ochronosis
  4. Darkening of Articular Cartilage
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20
Q

Define Ochronosis

A

Ochronosis is a syndrome caused by the accumulation of homogentisic acid in connective tissues.
.[1] The condition was named after the yellowish (ocher-like) discoloration of the tissue seen on microscopic examination. However, macroscopically the affected tissues appear bluish grey because of a light-scattering phenomenon known as the Tyndall effect.
The condition is most often associated with alkaptonuria but can occur from exogenous administration of phenol complexes like hydroquinone.

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21
Q

What AA are involved in Maple syrup Urinee Disease

A
  1. Leucine
  2. Isoleucine
  3. Valine
    All branched chain AA’s
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22
Q

What enzyme is affected in the Maple Syrup Urine Disease

A
  1. Alpha-Keto acid Dehydrogenase
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23
Q

Clinical manifestations of MSU (Maple syrup Urine) Disease

A
  1. Elevated levels of Alpha AA & their A-keto analogues in plasma and urine
  2. High mortality rate
  3. Neurological problems (mild retardation)
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24
Q

Propionyl CoA Carboxylase Deficiency- What enzyme is affected

A

Propionyl CoA Carboxylase

25
Q

Clinical manifestations in Popionyl CoA Carboxylase Disease

A
  1. Elevated Propionate in Blood
  2. Accumulation of odd chain Fatty Acids in liver
  3. Developmental Problems
26
Q

What Enzyme is affected by Cystathioninuria

A

Cystathionase deficiency (overall deficiency of Vitamin B6)

27
Q

Clinical manifestations of Cystathioninuria

A
  1. Accumulation of Cystathioninuria and Metabolites
  2. No clinical symptoms

Cystathioninuria, also called cystathionase deficiency, is an autosomal recessive
[1] metabolic disorder that results in an excess of cystathionine in the urine.
It is associated with a congenital dysfunction of the enzyme cystathionase, or acquired deficiency of vitamin B6 which is essential for the function of this enzyme.
The latter is usually related to an overall deficiency of all the B-complex vitamins.

28
Q

What Enzyme is affected in Cystathioninuria

A

Cystine

29
Q

What AA is involved in Homocystinuria

A

Homocysteine (derived form Methionine)

30
Q

Display Cysteine AA Structure

A

Structure

C-(Cys)

31
Q

Methionine Structure

A

Methionine Structure

M-(Met)

32
Q

What is the affected Enzyme of Homocystinuria

A

Cystathionine Synthetase

33
Q

Clinical manifestations of Homocystinuria

A
  1. Accumulation of Homocysteine in Urine
  2. Elevated methionine
  3. Elevated metabolites in blood
  4. Osteoporosis
  5. MR-Mental Retardation
  6. Lens discoloration
  7. Vascular Disease
34
Q

What AA is involved in Hisitdinemia

A
  1. Histidine
35
Q

What enzyme is affected in Histidinemia

A

Histidine-Alpha-deaminase

36
Q

Structure of Histidine

A

Structure of Histidine

H- (His)

37
Q

Clinical manifestation of Histidinemia

A
  1. Elevated hisitdinemia in blood and urine

2. Possible Minor MR (mental retardation)

38
Q

What enzyme is affected in Albinism

A

Tyrosinase

39
Q

What AA is involved in Albinism

A

Tyrosine

40
Q

Clinical manifestations of Albinism

A
  1. Inability to convert Tyrosine to Melanine

2. No visual pigment: Melanocytes

41
Q

What enzyme is affected by Tyrosinosis

A

FHA-Fumarylacetoacetate hydrolase

42
Q

What enzyme is affected by Tyrosinemia 1

A

FHA-Fumarylacetoacetate hydrolase

43
Q

What AA is involved in Tyrosinemia 1

A

Tyrosine

44
Q

Clinical manifestations of Tyrosinemia 1

A
  1. Death in First Year
  2. Body cannot break effectively break doown Tyrosine AA.
  3. Liver & Kidney Distrubances
  4. Intellectual Disability
    Hereditary tyrosinemia type 1 is an autosomal recessive disease caused by a deficiency of the last enzyme in the catabolic pathway of tyrosine, fumarylacetoacetate hydrolase (FAH) [10].
    FAH deficiency causes the fatal metabolic disease hereditary tyrosinemia type I. Carbon-carbon bond hydrolysis is also important in the microbial metabolism of aromatic compounds as part of the global carbon cycle [11].
    The diagnosis of tyrosinemia can be established by determination of succinylacetone in urine or serum and by assay of FAH in lymphocytes and fibroblasts [12].
45
Q

Clinical manifestations of Tyrosinemia Type 2

A
  1. Skin leasions
  2. MR (50% of Individuals with Type 2 suffer from MR)
  3. Deficiency in enzyme Tyrosine aminotransferase is the first in a series of five enzymes that converts tyrosine to smaller molecules, which are excreted by the kidneys or used in reactions that produce energy.
  4. disorder can affect the eyes, skin, and mental development.
  5. Symptoms often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful skin lesions on the palms and soles.
46
Q

What enzyme is defficient in Tyrosinemia Type 2

A

Tyrosine aminotransefase

47
Q

What enzyme is difficient in Non ketogenic Hyperglycinemia

A

Glycine cleavage Complex

48
Q

Clinical manifestations of Non Ketogenic Hyperglycinemia

Provided review

A
  1. Severe Mental deficiencies
  2. Low survival rate passed infancy
  3. Increased levels of Glycine in Blood
Firstly development, movement, intelligence etc is severely effected as we need glycine for many things like cognitive function, learning and retaining information. As glycine is a neurotransmitter it is also vital in ensuring messages are transmitted correctly from the brain to other parts of the body.
Secondly, because glycine is not broken down and used, toxic levels of it build up in the blood, brain, spinal fluid, organs and tissues. This causes brain damage, seizures which can often be difficult to control, muscle weakness and/or spasticity and a variety of other serious medical issues.
There is no cure for NKH but there are treatments.
Sodium Benzoate (SB) is used to remove the excess glycine from the blood by, in effect, sticking to it, so it is passed out in urine. As SB only lowers levels in the blood, Dextromethorphan is used to dull the part of the brain that glycine aggravates when it is present in brain and spinal fluid. Most children will have at least one seizure medication and nearly all will take some sort of antacid or protein pump inhibitor to protect their stomach against the harsh effect of SB.
49
Q

What AA is involved with Cystinuria

A

Cystine

50
Q

Structure of Cystine

A

Structure of Cystine

C-(Cys)

51
Q

What causes Cystinuria

A
  1. Persistent Kidney stones
  2. Disease involving the defective trans epithelial transport of cystine and dibasic amino acids in kidney and intestine
  3. High concentrations of cystine in using, leading to formation of cystine stones in the kidneys, ureter, and bladder
52
Q

What are common Factors of Cystinuria

A
  1. Most common genetic error of AA transport
  2. Inherited defect in intestinal absorption and canal reabsorbtion
  3. Cystine one of basic AA (COLA= Cystine, Ornithine, lysine, arginine)
  4. Under acidic conditions= poorly soluble forming kidney stones
  5. Diagnosis= established by abnormal quantity of Basic AA
53
Q

Define Hartnups Disease

A
  1. Loss of Tryptophan
  2. Defect in transport in the intestine and kidneys
  3. The effects of disease occur mainly in the brain and skin
  4. Inherited autosomal recessive disease
  5. Excessive loss of tryptophan from lalabsortption causes Pellagra (inflamed skin, diarrhea, sores in the mouth, peeling skin, darker pigmentation, scaling) like symptoms
  6. Pellagra a disease caused by lack of Niacin (Vitamin B3
  7. Impairment of Tryptophan absorption reduces the synthesis of Niacin
54
Q

Define Glycinuria

A
  1. Excretion of Glycine in the urine
  2. Kidney disorder characterized by the presence of excessive amount of Glycine in the urine
  3. Rare disorder due to defect in the Glycine cleavage system
  4. Transport of Gly/Pro is defective
    Note: Glycine can be oxidized to Oxalate: most kidney stones consist of calcium Oxalate
55
Q

Glycine Structure

A

Glycine Structure

G- (Gly)

56
Q

Kwashiorkor disease

A
  1. Deficiency of Protein intake
  2. Kwashiorkor, also known as “edematous malnutrition” because of its association with edema (fluid retention), is a nutritional disorder most often seen in regions experiencing famine. It is a form of malnutrition caused by a lack of protein in the diet. People who have kwashiorkor typically have an extremely emaciated appearance in all body parts except their ankles, feet, and belly, which swell with fluid.
57
Q

Marasmus Disease

A
  1. Malnutrition & lack of Caloric intake
  2. Marasmus occurs more often in young children and babies. It leads to dehydration and weight loss. Starvation is a form of this disorder. The symptoms of marasmus include:

weight loss
dehydration
chronic diarrhea
stomach shrinkage

58
Q

Sickle Cell Anemia is associated with which AA substitution

A

Valine substituted for Glutamic Acid

59
Q

Microcytic, Hypochromic Anemia can result from what factors

A
  • Dietary deficiency of Vit B6
  • Primary deficiency of Vit C and inability to absorb iron from the intestine
  • Deficiency of Iron
  • Deficiency of Folate

SUM: Med 1 Biochem (12 decks)

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