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Reproductive System > Genetic Disorders of Metabolic Pathways > Flashcards

Genetic Disorders of Metabolic Pathways Flashcards

1
Q

What are the Essential Amino Acids?

A

Amino Acids that we need to obtain in our diet (our body does not make them!)

PVT TIM HALL

Proline, Valine, Threonine, Tryptophan, Isoleucine, Methionine, Histidine, Arginine, Leucine, Lysine

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2
Q

What are the only 2 sulfur containing Amino Acids?

A
  1. Methionine

2. Cysteine (Can make cysteine from Methionine)

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3
Q

What are some general clinical presentations of Phenylketonuria (PKU)?

A
  • Light Hair, BLUISH eyes
  • CNS issues
  • Body Odor –> “musty” or “mousy”
  • Only 25% live beyond 30 years
  • HIGH levels of Phenylalanine in the blood! (100 x)
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4
Q

Describe the deficiency related to PRIMARY PKU.

A
  • Deficient Phenylalanine Hydroxylase
  • Build-up of Phenylalanine
  • LOW Tyrosine
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5
Q

Describe the deficiency related to SECONDARY PKU.

A
  • Involves the Insufficiency of Tetrahydrobiopterin (BH4)
  • Deficiency in DIHYDROPTERINE Reductase
  • If you don’t have BH4, then you are NOT going to be able to convert Phenyalanine into TYROSINE
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6
Q

What are some side compounds that are generated in response to the buildup of Phenylalanine? What happens when there are high levels of these compounds in the blood?

A
  1. Phenylacetate (gives the “musty odor”)
  2. Phenylpyruvate
  3. Phenyllactate

HIGH levels of these compounds in blood will BLOCK amino acid transport into the brain as well as MYELIN formation

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7
Q

What is an enzyme that is inhibited with HIGH Phenylalaine levels in newborns? Why is diagnosis so crucial?

A
  • Tyrosinase: Decrease in pigmentation (melanin)

- Loss of 5-IQ units every 10 weeks of delayed treatment

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8
Q

Describe the Guthrie Test.

A
  • Bacteria are frozen that need Phenylalanine to grow
  • If you have HIGH levels of Phenylalanine in the blood, when you put the blood on the agar plate, it will STIMULATE the bacteria to grow
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9
Q

What can Mass tandem spectrophotometry do?

A

Can give a detailed report on exactly which AMINO ACIDS are elevated in Blood and/or urine

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10
Q

Can Phenylalanine from the mother cross the placenta?

A

YES (Maternal PKU)

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11
Q

What is the main enzyme that is deficient in Alkaptouria?

A

Homogentisate Oxidase

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12
Q

Describe some characteristics associated with Alkaptouria.

A
  • Autosomal Recessive
  • Presents in 20’s-30’s
  • Dark-colored urine
  • Accumulation of HOMOGENTISATE (analogous to melanin)
  • Darkenend SCLERA
  • Degeneration of cartilage in JOINTS
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13
Q

Describe some characteristics associated with Albinism.

A
  • Autosomal Recessive
  • Unable to synthesize Melanin
  • Ocular defects
  • Increased RISK of basal cell and squamous carcinomas!
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14
Q

Which enzyme is deficient in Albinism?

A

Tyrosinase (Build-up of Tyrosine)

  • Cannot synthesize MELANIN!
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15
Q

Which enzyme is deficient in Type I Tyrosinemia?

A

Fumarylacetoacetate hydrolase (Build-up of Fumarylacetoacetate)

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16
Q

List some characteristics associated with Type I Tyrosinemia.

A
  • MOST COMMON and MOST SERIOUS
  • Infants have Cabbage-Like Odor
  • Liver and Kidney failure
17
Q

What is the side product that builds-up in Type I Tyrosinemia?

A

Succinylacetone

18
Q

Which enzyme is deficient in Type II Tyrosinemia?

A

Tyrosine aminotransferase (Build-up of TYROSINE)

19
Q

List some characteristics associated with Type II Tyrosinemia.

A
  • Tyrosine build-up
  • Tyrosine goes to the EYES and the SKIN (Oculocutaneous Tyrosinemia)
  • Crystals will form!
20
Q

Which enzyme is deficient in Type III Tyrosinemia?

A

p-Hydroxyphenylpyruvate Oxidase (Build-up of p-Hydroxyphenylpyruvate)

21
Q

List some characteristics associated with Type III Tyrosinemia.

A
  • Severe mental retardation occurs
22
Q

What is the Therapuetic intervention for patients with Type I Tyrosenima?

A

NITISINONE: Reversible inhibitor of p-hydroxyphenylpyruvate oxidase; prevents the formation of fumarylacetoacetate which is the PRECURSOR to succinylacetone

23
Q

What is an important product that needs to be made before the synthesis of Melanins?

A

Dopa-quinone

24
Q

Which enzyme is deficient in Classic Homocystinuria?

A

Cystathionine B-Synthase

25
Q

What disorders might hapen when you have a build-up of homocystine?

A
  • Stroke
  • Athlersclerosis
  • DVT
  • Mental Retardation (Cysteine and Sulfur Impairment)
  • Joint Contractures (GAGs)
  • MARFAN-LIKE habitus: Tall Stature/Long Figures
26
Q

Cysteine is crucial to which structures?

A
  1. Glutathione (Maintains cytoprotection)
    - Acetameinophen overdose will cause Liver failure due to Glutathione DEPLETION
  2. GAGs (i.e. heparin sulfate): Important component of Connective Tissue and Bone
27
Q

What is a Co-Factor for Cystathionine B-Synthase?

A

Pyridoxine (B6)

28
Q

Which enzyme is deficient in Maple Syrup Urine Disease?

A

a-Ketoacid dehydrogenase

29
Q

Maple Syrup Urine Disease involves which amino acids?

A
  1. Valine
  2. Isoleucine
  3. Leucine (Leucine is going to saturate the receptors for brain so you will not get Phenylalanine and Tyrosine in)

(Branched-Chain Amino Acids)

30
Q

What are some characteristics associated with Maple Syrup Urine Disease?

A
  • Autosomal Recessive
  • Symptoms appear 3-4 days after birth (feeding difficulties, lethargic, progressive neurodegeneration, abdnormal muscle tone, coma, death)
  • ELEVATED BCAAs and a-ketoacids (Burnt sugar smell)
31
Q

Which enzyme is deficient in Galactosemias?

A

Galactose-1-phosphate Uridyl Transferase (Build-up of Galactose-1-Phosphate)

32
Q

What are some characteristics associated with Galactosemias?

A
  • Trapping Galactose in the TISSUE by not being able to remove the Phosphate
  • CATARACTS appear due to the build-up of GALACTITOL (Produces CNS issues)
  • Galactose especially accumulates in the LIVER
33
Q

Keto acid dehydrogenase enzyme complex is similar to which other family of enzyme complexes?

A
  1. Pyruvate Dehydrogenase

2. a-ketoglutarate Dehydrogenase

Reproductive System (20 decks)

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