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DENTFN 510 Fall 21 > Week 3 > Flashcards

Week 3 Flashcards

1
Q

What is deamination?

A

Break down of amino acids to release the amino group and remove it as Ammonia NH3 for excretion in the urea cycle

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2
Q

What amino acid often is fed into the deamination cycle and what enzyme catalyzes the first step?

A

Alanine from muscle and alanine aminotransferase (ALT)

Along with B6 cofactor and alpha ketoglutarate make pyruvate and glutamate

Glutamate and NAD cofactor along with glutamate dehydrogenase makes NH3 to be fed into the Urea cycle

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3
Q

What is transamination?

A

Transfer of amino group from amino acid to alpha ketoglutarate by aminotransferases to make new non essential amino acids such most often glutamate

which is then combined with B6 cofactor and oxaloacetate and Aspartate amino transferase or AST

Which frees up alpha-ketoglutarate and makes Aspartate which feeds into the Urea cycle

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4
Q

Where do ALT/AST do their work?

A

AST- liver, muscles,kidneys, brain,RBCs

ALT- In the liver

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5
Q

What is one way amine groups are carried through the body?

A

They are attached to glutamate to make glutamine

ALT and AST can do this

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6
Q

Testing for ALT/AST levels tests what?

A

Liver function and damage

If the liver is damaged then the plasma membrane leaks proteins/AAs and ALT and AST build up…

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7
Q

How is ammonia fed into Urea cycle?
Aka what is the first step and what enzyme catalyzes it?
What is the product?

A

It is fed in as NH4 the ammonium ion.
Which reacts with Carbamoyl phosphate synthetase I enzyme to make Carbamoyl phosphate

This happens in the mitochondrial matrix of liver cells

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8
Q

Where does the Urea cycle happen?

A

Only in the liver

Hepatocyte cells

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9
Q

What is the 2nd step in ammonia being fed into urea cycle?

Aka what enzyme, where is cell and what product?

A

Carbamoyl phosphate and Ornithine reacts with the enzyme Ornithine Transcarbamoylase to make Citruline

This happens in the mitochondrial matrix of liver cells

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10
Q

What is the 3 step (and 3rd enzyme she wants us to remember) in the Urea cycle and where does it happen?

A

Citruline crosses into the cytoplasm in liver cells.
It then reacts with the Argininosuccinate Synthetase Enzyme and Aspartate and ATP to make Argininosuccinate

This goes on to make arginine the urea

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11
Q

What happens when the first step enzyme Carbamoyl Phosphate Synthetase enzyme is deficient and when can this happen?

A

This happens when Carbamoyl phosphate Synthetase leaks out of cells when liver is damaged due to cirrhosis of liver.
There is a build up of ammonia and loss of Carbamoyl phosphate

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12
Q

What TCA cycle intermediate is also used a lot in nitrogen metabolism?

A

Alpha ketoglutarate

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13
Q

What can amino acids be converted into?

A

TCA cycle intermediates

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14
Q

What are glucogenic AAs?

A

Amino acids that can be converted to glucose

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15
Q

What are ketogenic AAs?

A

Amino acids that are converted to Acetyl CoA to produce ketones

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16
Q

What happens if AST level is increased?

A

Acute hepatitis renal disease hemolytic anemia myocardial infarctions

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17
Q

What happens if ALT level is is increased?

A

Acute hepatitis

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18
Q

What is BUN?

A

Blood urea nitrogen

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19
Q

What does testing for BUN levels tast?

A

Kidney function- increased levels = kidney damage

Can also access the effectiveness of dialysis

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20
Q

What is often tested at the same time as BUN?

A

Blood creatinine (waste product filtered by kidneys)

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21
Q

What happens when something g goes wrong in the urea cycle?

A

Hyperammonenia

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22
Q

What is hyperammonemia?

A

Too much ammonia
Elevates glutamine levels

Due to urea cycle defects aka defects in detoxification or over production of ammonia

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23
Q

What is the most common enzyme to be defective in Urea Cycle?

A

Ornithine Transcarboxylase also know as OTC

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24
Q

What happens in OTC deficiency and what step of Urea cycle is it?

A

This is the second step in urea cycle.
There are increased levels of Carbamoyl Phosphate
Causes orange crystals in diaper

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25
Q

What part of life is OTC deficiency most common?

A

Early age- still in diapers

Causes orange crystals in diapers

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26
Q

What is CPS I?

A

Carbamoyl Phosphate Synthetase I

First step in urea cycle enzyme

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27
Q

What happens in a CPS I deficiency?

A

Build up of ammonia aka hyperammonemia
Inherited disorder that is often fatal

Liver damage can potentially cause the first step not to happen as well

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28
Q

What happens in Argininosuccinate Synthetase Deficiency?

A

Causes elevated levels of Citruline
Failure to thrive, vomiting lethargy mental defects
Then hyperammonemia and coma and death
Recommended that newborns be screened for it

Autosomal recessive

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29
Q

What Syndrome is often associated with Urea Cycle disorders?

A

Reyes Syndrome
Rare childhood disease

Liver failure, hyperammonemia, hypoglycemia, abnormal brain function

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30
Q

What is Reyes Syndrome?

A

Rare childhood disease associated with urea cycle disorders

Liver failure, hyperammonemia, hypoglycemia, abnormal brain function

After a viral infection in children such as chicken pox or flu it can be triggered by aspirin

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31
Q

Name the 6 amino acid diseases she wants us to memorize?

A
  1. Phenylketonuria
  2. Oculocutaneous Albinism
  3. Alkaptonuria
  4. Cystinuria
  5. Homocystinuria
  6. Maple Syrup Urine Disease (Ketoacidemia)
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32
Q

What amino acid is associated with PKU aka phenylketonuria?

A

Phenylalanine

Babies lack an enzyme responsible for breaking it down

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33
Q

What are the symptoms of PKU/phenylketonuria?

A

Intellectual disability and microcephaly since Phe is toxic to brain

Decreased skin and hair pigmentation since Phe can’t be transformed into melanin

Musty odor

Recommended routine screening of newborns for it

TX protein limited diet

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34
Q

True or False

It is NOT recommended to screen for PKU among newborns

A

False

It is recommended that all newborns be tested for Phenylketonuria

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35
Q

What enzyme is affected in Oculocutaneous Albinism?

A

Tyrosine aka Tyr

Try doesn’t get converted to melanin

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36
Q

What are the symptoms of Oculocutaneous Albinism?

A

Typical Albinos
Various enzymes affected in different types but all affect Tyrosine and melanin production

Lack pigmentation, white hair, light eyes, pale skin, light irises

Oculo is eye
Cutaneous is skin

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37
Q

What enzyme is affect in alkaptonuria?

A

Tyrosine

Also affects Phe

Alkaptonuria is an autosomal recessive disorder caused by a deficiency of the enzyme homogentisate 1,2-dioxygenase. This enzyme deficiency results in increased levels of homogentisic acid, a product of tyrosine and phenylalanine metabolism.

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38
Q

What are the symptoms of alkaptonuria?

A

Homogenistic acid builds up causing dark discoloration

Also called black urine disease
Dark urine
Pigmented/dark sclera of eye aka ochronosis
Bluish-black discoloration of skin and cartilage

Alkaptonuria is an autosomal recessive disorder caused by a deficiency of the enzyme homogentisate 1,2-dioxygenase. This enzyme deficiency results in increased levels of homogentisic acid, a product of tyrosine and phenylalanine metabolism.

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39
Q

What amino acid is affected in Cystinuria?

A

Cysteine

Cystinuria is an autosomal-recessive defect in reabsorptive transport of cystine and the dibasic amino acids ornithine, arginine, and lysine from the luminal fluid of the renal proximal tubule and small intestine

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40
Q

What are the symptoms of Cystinuria?

A

Excessive urinary secretion of cysteine and kidney stones

Cysteine doesn’t get reabsorbed back into blood stream and accumulates in urine and makes crystals

Can create blockages in the urinary tract causing difficulty for kidneys to eliminate waste

Increased risk of bacterial infections

TX: drink more water, change diet-less salt and medications

41
Q

What amino acid is affected by homocystinuria?

A

Met aka methionine

Homocystinuria (HCU) is a rare but potentially serious inherited condition. It means the body can’t process the amino acid methionine. This causes a harmful build-up of substances in the blood and urine

42
Q

What are the symptoms of homocystinuria?

A

Myopia
Marfan like skeletal changes (widening of epiphyses and metaphyses of long bones), intellectual disability, scoliosis, DVT aka deep vein thrombosis

TX- Protein restricted diet and meds

New born screening is most states

43
Q

Is there screening for homocystinuria in newborns?

A

Yes in most states

44
Q

What amino acid is affected by maple syrup urine disease aka ketoacidemia?

A

Ile/isoleucine
Leu/leucine
And Val/Valine

Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) proper

45
Q

What are the symptoms of Maple Syrup Urine Disease (Ketoacidemia)?

A

Intellectual disability, Ketosis, seizures

High levels of Ile, leu, Val and other amino acids build up and are toxic to brain and other organs

TX: protein restricted diet and liver transplant

46
Q

Step 1 of heme synthesis?

Reactants, enzymes and cofactors? Where?

A

Reactants- Glycine + Succinyl-CoA

Enzyme- ALA synthase

Cofactors- B6

Where- mitochondria

Makes- delta-Aminolevulinic Acid

47
Q

What represses ALA synthase- the enzyme in the first step of heme synthesis?

A

Heme

48
Q

2nd step of Heme synthesis?

A

Reactant- delta-Aminolevulinic Acid

Enzyme- ALA dehydratase (inhibited by lead)

Product- Porphobilinogen

49
Q

What inhibits ALA dehydratase the enzyme responsible for the second step of heme synthesis?

A

Lead

50
Q

What is the last step in heme synthesis?

Reactant, Enzyme, cofactor, and product?

A

Reactant- protoporphyrin IX

Enzyme- Ferrochelatase (inhibited by lead)

Cofactor- Fe2+

Product- Heme

51
Q

What inhibits Ferrochelatase the enzyme in the last/7th step in heme synthesis?

A

Lead

52
Q

What two enzymes in heme synthesis are inhibited by lead?

A

ALA dehydratase (2nd step)

Ferrochelatase (last/7th step)

53
Q

Name two heme associated diseases?

A

Sideroblastic Anemia

Microcytic Hypochromic Anemia

54
Q

What can cause Sideroblastic Anemia?

A

2 potentials-
B6 deficiency or lead poisoning

It is a build up of iron in cells due to heme synth not happening

55
Q

What can cause Microcytic hyprochromic anemia?

A

Iron deficiency

Results in small and pale RBCs

56
Q

What happens to heme released from hemoglobin during hemolysis of older RBCs?

A

It is converted to bilirubin

57
Q

What can excess blood level of bilirubin lead to?

A

Jaundice

58
Q

What happens in jaundice?

A

High levels of bilirubin cross blood brain barrier causing kernicterus/brain damage which

Causes cerebral palsy, hearing loss, intellectual disability and stains on enamel of primary teeth

59
Q

How is jaundice treated?

A

Phototherapy and blood exchange transfusions

60
Q

What is the Potter Sequence?

A
  1. Kidneys don’t develop correctly
  2. Baby doesn’t pee out enough urine to maintain amniotic fluid volume aka causes oligohydramnios
  3. Due to oligohydramnios the sac is smaller and the baby is compressed
  4. Physical symptoms like lungs not developing properly, limb contractures, hand and foot defects, altered face
61
Q

What are the symptoms of the Potter Sequence?

A 
Compression of baby leads to:
Lungs not developing  properly
Limb contractures
Hand and foot defects
Altered face
62
Q

What is the pathogenesis, clinical and pathological features of the Pierre Robin Sequence?

A
  1. A hypoplastic mandible at 7-11 weeks gestation cause the tongue to be not in the right place
  2. It is high and toward the back of the mouth which interferes with palatial formation
  3. U shaped cleft palate develops
  4. The tongue position can also cramp the airway space making it narrow
  5. Mandibular growth in first few weeks of life help
63
Q

What is Fetal Alcohol Syndrome?

A

Exposure to alcohol as a fetus causes growth retardation, intellectual impairment and facial changes, heart septum defects, small birth weight

64
Q

What is the number one cause of an acquired intellectual delay?

A

Fetal Alcohol Syndrome

65
Q

True or False

Fetal alcohol syndrome babies heart septum defect close up spontaneously

A

True

They often heal on their own

66
Q

Name 5 facial common distinguishing facial features Of Fetal Alcohol Syndrome kids?

Name 4 associated features?

A

Discriminating features

  1. Short palpebral fissures aka how wide and eye will open
  2. Flat midface
  3. Short nose
  4. Indistinct philtrum aka indentation above the upper lip
  5. Thin upper lip

Associated Features

  1. Epicanthal folds aka skin fold of upper lid that covers the inner corner of eye
  2. Low nasal bridge
  3. Minor ear abnormalities
  4. Micrognathia
67
Q

What causes cleft lips and palates?

A

Mix of genetic and Environmental factor such as
Smoking mom, folate zinc cholesterol deficiencies, other things like maternal obesity hyperthermia, stress radiation, infections

Multi factorial threshold hypothesis

68
Q

Do clefts lip, palates and bifid uvula occur alone of with other syndromes?

A

70% occur alone

69
Q

How common are cleft lips and palates?

A

1.5-2.5 in 1000 births

Cleft lip is 1 in 1000

70
Q

What race has the highest cleft lip rate and which is lowest?

A 
Highest= Asian
Lowest= African
71
Q

What is the developmental error and when does it happen?

A

Failure of medial nasal and maxillary processes to close at about week 5-7 in utero

72
Q

How is severity classified?

A

Several ways but usually unilateral or bilateral and how far up the lip it goes from edge alway up to nose or not
Veau Classification rates from I to IV

73
Q

What happens in cleft palate alone? And what time of development?

A

Palatial shelves fail to merge at about 8-10 weeks

74
Q

How common is cleft palate?

A

One in 2500 births

75
Q

What is bifid uvula?

A

Mild form of cleft palate where just the uvula is affected

Not counted in to defect rate

76
Q

Can cleft palate just affect the soft palate?

A

Yes it is super mild and often not counted into the occurrence rate

77
Q

What is a submucosal cleft palate?

A

Where the defect in bone is covered by soft tissue

78
Q

Classification of cleft palates?

A

Veau’s rating system
I-IV
From soft palate only to how much of palate is involved and if it is bilateral

79
Q

How are cleft lips and palates treated?

A

Surgically
Babies can’t suckles so need prosthetic device to cover the defect, feeding tubes, a sippy cup call the NIFTY cup

Then speech therapy, cosmetic surgery, dental surgery etc
Interdisciplinary team

80
Q

What is DiGeorges syndrome?

A

A syndrome that falls under Chromosome 22q11 Syndrome or CATCH 22 Syndrome

Velocardialfacial Syndrome falls under same umbrella group with different prominent symptoms

Caused by a deletion of band 11 on long arm of chromosome 22

81
Q

What features are shared by DiGeorges Syndrome?

A 
Spectrum of disorders sharing- 
Congenital heart disease
Palatal Abnormalities 
Facial Dismorphology
Developmental Delay
Thymic hypoplasia- impaired T-cells
Parathyroid hypoplasia- hypocalcemia
82
Q

What are the most prominent symptoms of DiGeorges Syndrome?

A

Both thymic and parathyroid hypoplasia resulting In immunodeficiency and hypocalcemia

83
Q

What is the cause of DiGeorges Syndrome and how often does it occur?

A

A defect in the 3rd and 4 branchial pouches

Occurs in 1 in 3000 births

84
Q

What is does CATCH 22 stand for?

A

C cardiac- aortic arch anomalies

A abnormal face- short down slanting eyes, high broad (wide spaced eyes) nasal bridge, long face, micrognathy, short philtrum, ear anomalies with recurrent ear infections, velopharyngeal incompetence 20%, sucking and swallowing problems

T thymic hypoplasia- cellular immune deficiency aka abnormal function and number of T-cells aka Bcells don’t work with out TCells
C Cleft Palate

H Hypoparathyroid cause hypocalcemia, parathyroid make PTH which controls calcium, this can cause muscle tetany/spasms

22 deletion on 22q11 chromosome

Diagnosed by FISH

85
Q

What is Cri du Chat Syndrome?

A

A rate syndrome where chromosome 5 is missing part of small arm

Named after the high pitched mewing sound the babies make like a cats cry

86
Q

What determines severity of Cri du Chat?

A

Amount of genetic material missing

87
Q

What are the symptoms of Cri du Chat?

A

Intellectual delay and language difficulty, microcephaly/small head, low birthweight, hypotonia/poor muscle tone, hypertelorism/widely spaced eyes

88
Q

What is Marfans Syndrome?

A

An autosomal dominant disorder of connective tissue cause by defective gene for Fibrillin (FBN1)

89
Q

How often does Marfans Syndrome occur?

A

Once in every 10-20 K

90
Q

What’s parts of the body does Marfans affect?

A

Connective tissue found all over body so it effects many parts all over including skeleton, lungs, eye, heart, and blood vessels

91
Q

Symptoms of Marfans Syndrome?

A

Long fingers and bones, tall and thin, arm span can exceed height, week vessel walls and heart with increases potential for aneurysms- need to control blood pressure, can have dissecting aneurysms in aortic arch, mitral valve prolapse, near-sighted and can have dislocated lenses

92
Q

What is Elhers Danlos Syndrome or EDS?

A

A group of 10+ connective tissue disorders caused by faulty collagen synthesis or structure.

93
Q

How common is Elhers Danlos Syndrome?

A

1 in 5 to 10K

94
Q

Symptoms of Elhers Danlos Syndrome?

A

Not all types have same symptoms but they include:
Joint hypermobility, stretchy skin, fragile skin, periodontal disease due to weak perio ligaments, weak arteries, weak uterus, blue sclera,

95
Q

What is Osteogenesis Imperfecta?

A

A disease that involve faulty collagen that impacts bone formation- also called brittle bone disease
There are at least 4 subtypes and they all can vary in severity

96
Q

What are symptoms of Osteogenesis Imperfecta aka OI?

A

Fragile bones that fracture easy. Long and bowed bones
Blue Sclera
Lax ligaments
Hearing loss
Defective dentin aka dentinogenesis Imperfecta

97
Q

Does dentiogenesis Imperfecta always occur with OI?

A

No DI can occur on its own or as a part of OI and not every one with OI has DI

98
Q

What is Treacher Collins Syndrome?

A

A condition caused by an AD mutation on chromosome 5 resulting in defective Treacle proteins that cause malformations of 1st and 2 branchial arches.

Mostly affects the face

99
Q

What defects does Treacher Collins cause?

A

Mainly cosmetic defects- melting face

Ears- absent, undeveloped or malformed (microtia), cumductiv hearing loss of varying degrees to deafness. Can use bone conduction hearing aids if born with out external ears

Face- hypoplastic sinuses, zygomatic bones can be absent, malformed or hyperplastic

Eyes- downward slanting due to no zygomating arch support, no eyelashes on lower inner 1/3 of eyelid notched iris and or choroid, notched lower lid

Jaws- mandible under developed aka micrognathia, can be misaligned, generally short with steep gonial angle, chin may be underdeveloped

Mouth- Large oral opening aka macrostomia, sometime fissures extend from corner of mouth to ears, high palate or 30% cleft palate, parotid glands can be absent

Surgical interventions

DENTFN 510 Fall 21 (5 decks)

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