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Medical Genetics > Small Molecules > Flashcards

Small Molecules Flashcards

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1
Q

What is the most common urea cycle disorder?

A

OTC
- X-linked

ammonia builds up and can get to the brain

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2
Q

What can we test to detect OTC?

A

(X-linked)

Plasma amino acids
Ammonia level
Orotic acid level

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3
Q

What are some treatment options for OTC?

A
  1. limit precursors –> low protein diet + metabolic formula
  2. Meds help Clear toxins –> ammonul, phenylbutryate, benzoate
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4
Q

What Urea cycle disorder is NOT on NBS?

A

OTC

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5
Q

What does Acidemia mean?

A

acid in the blood

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6
Q

What tests can we order for Organic Acid Disorders?

A

Urine organic acids

Will observe LOW pH and LOW CO2 bicarbinate

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7
Q

The name of the Org Acid Disorder tells you?

A

tells what acid is accumulating - ex: Methylmalonic Acidemia = accum of methylmalonic acids

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8
Q

Org Acids are coming from breakdown of what?

A

breakdown of certain amino acids

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9
Q

What are some treatment options for Organic Acid Dis?

A
  1. Limit precursors
    –> low protein diet
    –> metabolic formula
  2. Meds to Clear toxins –> carnitine
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10
Q

What is the most common aminoacidopathy?

A

PKU

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11
Q

How are we (generally) testing for Aminoacidopathies?

A

Plasma amino acids
Levels of the toxin

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12
Q

Aminoacidopathy: PKU - what cannot get broken down? What is the toxin?

A

Phenylalanine

Phenylalanine = toxin

(PAH)

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13
Q

Aminoacidopathy: Tyrosinemia Type 1 - what cannot get broken down? What is the toxin?

A

Tyrosine

Succinylacetone = toxin

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14
Q

Aminoacidopathy: Alkaptonuria - what cannot get broken down? What is the toxin?

A

Tyrosine

Homogentisic acid = toxin

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15
Q

Aminoacidopathy: MSUD - what cannot get broken down? What is the toxin?

A

branched chain amino acids (Leucine, Isoleucine, Valine)

Leucine = toxin

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16
Q

Aminoacidopathy: Non-Ketotic Hyperglycinemia (NKH) - what cannot get broken down? What is the toxin?

A

Glycine

Glycine = toxin

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17
Q

Aminoacidopathy: Homocystinuria - what cannot get broken down? What is the toxin?

A

Methionine

Homocysteine = toxin

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18
Q

Aminoacidopathy: Glutaric Acidemia Type 1 - what cannot get broken down? What is the toxin?

A

Lysine

Glutaric acid = toxin

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19
Q

High Phe levels —> what smell?

A

Mousy odor

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20
Q

What is the danger to excess phenylalanine

A

Builds up in brain

ADHD, anxiety
Severe cog disability

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21
Q

If Mom does not control her PKU, what can happen to baby?

A

heart defects
microcephaly
devel disab

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22
Q

What are treatment options for PKU?

A

Low protein diet
Met Formula

Meds to clear toxins: Sapropterin, Palynziq

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23
Q

What is the cause of Tyrosinemia Type 1?

A

FAH

body cannot produce tyrosine, so then succinylacetone accumulates

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24
Q

What organ is heavily impacted in Tyrosinemia Type 1?

A

Liver

(FAH)

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25
Q

How can we test for Tyrosinemia Type 1?

A

(FAH)

Plasma amino acids (tyrosine)
Succinylacetone

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26
Q

How can we treat Tyrosinemia Type 1?

A

Low pro diet
Met form

Clear toxins - Nitisinone

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27
Q

What is the cause of Alkaptonuria?

A

HGD

Cannot break down HomoGentisic Acid —> issues over time

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28
Q

What are the main effects of Alkaptonuria?

A

HGD

dark, melanon-like pigment binds to cartilage and connective tissue —> onchirnosis

dark urine

Builds up in joints –> arthritis, esp spine + larger joints

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29
Q

How can we treat Alkaptonuria?

A

(HGD)

ONLY: Meds for clearance for toxins - Nitisinone

(same as for Tyrosinemia bc in same pathway)

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30
Q

What is the cause of MSUD?

A

BCKDHA, BCKDHB, DBT

cannot break down branched chain amino acids

31
Q

What complications does MSUD lead to?

A

(BCKDHA, BCKDHB, DBT)

Leucine causes brain swelling that can lead to coma
Can lead to death

32
Q

What treatment is available for MSUD?

A

(BCKDHA, BCKDHB, DBT) (Aminoacidopathies)

ONLY low protein diet + met formula

33
Q

What meds can we use for MSUD?

A

BCKDHA, BCKDHB, DBT (Aminoacidopathy)

NONE!

34
Q

What causes Non-Ketotic Hyperglycinemia?

A

AMT, GLDC, GCSH (Aminoacidopathy)

cannot break down glycine

35
Q

What complications arise from Non-Ketotic Hyperglycinemia?

A

AMT, GLDC, GCSH (Aminoacidopathy)

glycine gets into the blood and brain –> terrible seizures/intractable epilepsy + Profound cog disability

36
Q

How can we limit precursors for Non-Ketotic Hyperglycinemia?

A

AMT, GLDC, GCSH (Aminoacidopathy)

We cannot bc bods produce much more glycine than what we get from food

37
Q

How can we treat Non-Ketotic Hyperglycinemia?

A

AMT, GLDC, GCSH (Aminoacidopathy)

ONLY meds to clear glycins: Sodium Benzoate or Dextromethorphan

NO way to limit precursors

38
Q

What is the cause of homocystinuria?

A

CBS - Aminoacidopathy

cannot break down methionine; toxin homocystein builds up

39
Q

What complications arise from Homocystinuria?

A

CBS - Aminoacidopathy

results in a body that looks like Marfan, but recurrent strokes (usu adulthood)

40
Q

How can we treat Homocystinuria?

A

CBS - Aminoacidopathy

Low protein diet + Met form

Clear toxins w betaine or Vit B6

41
Q

What is the cause of Glutaric Aciduria Type 1?

A

GCDH - Aminoacidopathy

cannot break down lysine and tryptophan; toxin glutaric acid builds up

42
Q

What are main complications of Glutaric Aciduria Type 1?

A

GCDH Aminoacidopathy

infants can have sudden and unexpected stroke in basal ganglia (pt that controls movement); debilitating movement disorder post stroke

if childhood w/o stroke –> pretty healthy lives w/o stroke risk

43
Q

How can we treat Glutaric Aciduria Type 1?

A

Low pro diet + met formula

Clear toxins w Carnitine

44
Q

Out of these aminoacidopathies:
PKU
Tyro Type 1
Alkaptonuria
MSUD
Non-Ket Hyperglycinemia
Homocystinuria
Glutaric Aciduria Type 1

Which ones can we test for using urine organic acids?

A

Alkaptonuria
Glutaric Aciduria Type 1

(so ONLY ones w Uria)

45
Q

Out of these aminoacidopathies:

PKU
Tyro Type 1
Alkaptonuria
MSUD
Non-Ket Hyperglycinemia
Homocystinuria
Glutaric Aciduria Type 1

Which can we NOT limit precursors for?

A

Alkaptonuria (no benefit shown)
Non-Ketotic Hyperglycinemia (glycine made in body)

46
Q

Out of these Aminoacidopathies:

PKU
Tyro Type 1
Alkaptonuria
MSUD
Non-Ket Hyperglycinemia
Homocystinuria
Glutaric Aciduria Type 1

Which has NO way to clear toxins by meds?

A

MSUD

47
Q

What causes Galactosemia (Carb Disorder)

A

GALT

cannot break down galactose (milk sugar)

48
Q

What complications can arise from Glactosemia?

A

GALT - Carb Disorder

Speech delays, brain damage, jaundice, enlarged kidney, kidney damage, and more

infection E. Coli Sepsis

49
Q

How can we test for Galactosemia?

A

GALT enzyme testing
Gal-1-p
Urine galactitol

50
Q

How can we treat Galactosemia?

A

GALT

limit precurosor - no galactose

51
Q

What causes Hered Fructose Intolerance?

A

ALDOB

cannot break down Fruc-1-phosphate

52
Q

What complications arise form Hered Fruc Intol?

A

ALDOB

  1. Hypoglycemia
  2. toxic effect on liver, kidney, SI

nausea, vomiting, kidney failure, low Phosphate, FTT, and more

53
Q

How can we treat Hered Fruc Intoler?

A

ONLY limit precursors - so no fruits and no sucrose

54
Q

How can we test for Hered Fruc Intol?

A

ONLY molecular testing

Bio testing would be too dangerous bc would have to give the toxin

55
Q

What causes Wilson Disease?

A

Metal disorder - ATP7B

accumulation of copper in the tissues

56
Q

What complications arise from Wilson disease?

A

ATP7B (metal disorders)

Kayser-Fleischer ring (around iris)
Liver failure
Personality disorders like psychosis or movement disorder

57
Q

How can you test for Wilson disease?

A

ATP7B

DEC Serum copper
DEC serum ceroluplasmin
INC urin copper (bc accum in tissues)

58
Q

How can we treat Wilson disease?

A

ATP7B

limit pre - no high copper foods
clear toxins - chelators (penicillamine), Zinc

59
Q

What is the cause of Menkes disease?

A

X-linked; ATP7B (same gene as Wilson, but this is dif) - Metal disorders

defective copper uptake in the intestines

60
Q

How can we test for Menkes disease?

A

ATP7B

DEC Serum copper
DEC serum ceroluplasmin
INC urin copper (bc accum in tissues)

61
Q

What complications arise from Menkes disease?

A

ATP7B (X-linked)

healthy until 2y, then regression

hypotonia, seizures, FTT, skin laxity
kinky hair

62
Q

What treatment options are available for Menkes disease?

A

ATP7B (X-linked)

give copper

NO meds out there

63
Q

Carrier freq for PKU

A

1/58

64
Q

Which of these can lead to problems of myelination ofo the white matter?

A

PKU —> ID due to this (Aminoacidoapthy)

65
Q

Which of these can lead to problems w decreased pigmentation?

A

PKU —> bc melanin is synth from tyrosine

66
Q

Organic Acid Disorders are severe and typically ?

A

difficult to treat

(Methylmalonic Acidemia
Propionic Acidemia
Isovaleric Acidemia)

67
Q

If you think about Amino acids, if you remove the amine group,you end up w a ?

A

Organic acid!

Methylmalonic Acidemia
Propionic Acidemia
Isovaleric Acidemia

68
Q

When methylmalonic acid accumulates when it cannot be converted to Succinyl CoA…we have what resulting?

A

Organic Acid Disorder! Methylmalonic Acidemia

it lowers the acidity of body pH to ~6.9 which is NOT sustainable

69
Q

Why do those with Methylmalonic Acidemia become pancytopenic?

A

this means they have low WBC, RBC, and platelet counts

this is bc Methylmalonic Acid SUPPRESSES the bone marrow

it ALSO SUPPRESSES the urea cycle, so elevated ammonia

70
Q

Methylmalonic Acidemia suppresses ? and ?

A

Bone marrow AND urea cycle

–> pancytopenia + elev ammonia

71
Q

Which Organic Acid detects elevated 3C?

A

Methylmalonic Acidemia

72
Q

Which organic acid disorder detects elevated 5C?

A

Isovaleric Acidemia

73
Q

With Urea Cycle Disorders, we have amino acids that naturally have a Nitrogen group. They are metabolized, then what?

A

nitrogen = released
Excess nitrogen = converted to ammonia (toxic compound)
urea cycle = pathway by which urea is produced to DETOX the body from excess ammonia

74
Q

Of these Urea Cycle Disoders:

Carbamyl Phosphate Synthetase (CPS) Deficiency
N-AcetylGlutamate (NAGS)Deficiency
Ornithine Transcarbamylase (OTC)Deficiency
Citrullinemia
Arginnosuccinic Aciduria (ASA)
Arginase Deficiency

Which can be dx on NBS?

A

ASA and Citrullinemia

Medical Genetics (14 decks)

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