Medical Genetics > Small Molecules > Flashcards

Small Molecules Flashcards

(74 cards)

Study These Flashcards
1
Q

What is the most common urea cycle disorder?

A

OTC
- X-linked

ammonia builds up and can get to the brain

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What can we test to detect OTC?

A

(X-linked)

Plasma amino acids
Ammonia level
Orotic acid level

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What Urea cycle disorder is NOT on NBS?

A

OTC

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What does Acidemia mean?

A

acid in the blood

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What tests can we order for Organic Acid Disorders?

A

Urine organic acids

Will observe LOW pH and LOW CO2 bicarbinate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

The name of the Org Acid Disorder tells you?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Org Acids are coming from breakdown of what?

A

breakdown of certain amino acids

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is the most common aminoacidopathy?

A

PKU

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

How are we (generally) testing for Aminoacidopathies?

A

Plasma amino acids
Levels of the toxin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

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

A

Phenylalanine

Phenylalanine = toxin

(PAH)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

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

A

Tyrosine

Succinylacetone = toxin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

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

A

Tyrosine

Homogentisic acid = toxin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

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

A

branched chain amino acids (Leucine, Isoleucine, Valine)

Leucine = toxin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

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

A

Glycine

Glycine = toxin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

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

A

Methionine

Homocysteine = toxin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

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

A

Lysine

Glutaric acid = toxin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

High Phe levels —> what smell?

A

Mousy odor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is the danger to excess phenylalanine

A

Builds up in brain

ADHD, anxiety
Severe cog disability

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

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

A

heart defects
microcephaly
devel disab

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What are treatment options for PKU?

A

Low protein diet
Met Formula

Meds to clear toxins: Sapropterin, Palynziq

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What is the cause of Tyrosinemia Type 1?

A

FAH

body cannot produce tyrosine, so then succinylacetone accumulates

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What organ is heavily impacted in Tyrosinemia Type 1?

A

Liver

(FAH)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
How can we test for Tyrosinemia Type 1?
(FAH) Plasma amino acids (tyrosine) Succinylacetone
26
How can we treat Tyrosinemia Type 1?
Low pro diet Met form Clear toxins - Nitisinone
27
What is the cause of Alkaptonuria?
HGD Cannot break down HomoGentisic Acid ---> issues over time
28
What are the main effects of Alkaptonuria?
HGD dark, melanon-like pigment binds to cartilage and connective tissue ---> onchirnosis dark urine Builds up in joints --> arthritis, esp spine + larger joints
29
How can we treat Alkaptonuria?
(HGD) ONLY: Meds for clearance for toxins - Nitisinone (same as for Tyrosinemia bc in same pathway)
30
What is the cause of MSUD?
BCKDHA, BCKDHB, DBT cannot break down branched chain amino acids
31
What complications does MSUD lead to?
(BCKDHA, BCKDHB, DBT) Leucine causes brain swelling that can lead to coma Can lead to death
32
What treatment is available for MSUD?
(BCKDHA, BCKDHB, DBT) (Aminoacidopathies) ONLY low protein diet + met formula
33
What meds can we use for MSUD?
BCKDHA, BCKDHB, DBT (Aminoacidopathy) NONE!
34
What causes Non-Ketotic Hyperglycinemia?
AMT, GLDC, GCSH (Aminoacidopathy) cannot break down glycine
35
What complications arise from Non-Ketotic Hyperglycinemia?
AMT, GLDC, GCSH (Aminoacidopathy) glycine gets into the blood and brain --> terrible seizures/intractable epilepsy + Profound cog disability
36
How can we limit precursors for Non-Ketotic Hyperglycinemia?
AMT, GLDC, GCSH (Aminoacidopathy) We cannot bc bods produce much more glycine than what we get from food
37
How can we treat Non-Ketotic Hyperglycinemia?
AMT, GLDC, GCSH (Aminoacidopathy) ONLY meds to clear glycins: Sodium Benzoate or Dextromethorphan NO way to limit precursors
38
What is the cause of homocystinuria?
CBS - Aminoacidopathy cannot break down methionine; toxin homocystein builds up
39
What complications arise from Homocystinuria?
CBS - Aminoacidopathy results in a body that looks like Marfan, but recurrent strokes (usu adulthood)
40
How can we treat Homocystinuria?
CBS - Aminoacidopathy Low protein diet + Met form Clear toxins w betaine or Vit B6
41
What is the cause of Glutaric Aciduria Type 1?
GCDH - Aminoacidopathy cannot break down lysine and tryptophan; toxin glutaric acid builds up
42
What are main complications of Glutaric Aciduria Type 1?
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
How can we treat Glutaric Aciduria Type 1?
Low pro diet + met formula Clear toxins w Carnitine
44
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?
Alkaptonuria Glutaric Aciduria Type 1 (so ONLY ones w Uria)
45
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?
Alkaptonuria (no benefit shown) Non-Ketotic Hyperglycinemia (glycine made in body)
46
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?
MSUD
47
What causes Galactosemia (Carb Disorder)
GALT cannot break down galactose (milk sugar)
48
What complications can arise from Glactosemia?
GALT - Carb Disorder Speech delays, brain damage, jaundice, enlarged kidney, kidney damage, and more infection E. Coli Sepsis
49
How can we test for Galactosemia?
GALT enzyme testing Gal-1-p Urine galactitol
50
How can we treat Galactosemia?
GALT limit precurosor - no galactose
51
What causes Hered Fructose Intolerance?
ALDOB cannot break down Fruc-1-phosphate
52
What complications arise form Hered Fruc Intol?
ALDOB 1. Hypoglycemia 2. toxic effect on liver, kidney, SI nausea, vomiting, kidney failure, low Phosphate, FTT, and more
53
How can we treat Hered Fruc Intoler?
ONLY limit precursors - so no fruits and no sucrose
54
How can we test for Hered Fruc Intol?
ONLY molecular testing Bio testing would be too dangerous bc would have to give the toxin
55
What causes Wilson Disease?
Metal disorder - ATP7B accumulation of copper in the tissues
56
What complications arise from Wilson disease?
ATP7B (metal disorders) Kayser-Fleischer ring (around iris) Liver failure Personality disorders like psychosis or movement disorder
57
How can you test for Wilson disease?
ATP7B DEC Serum copper DEC serum ceroluplasmin INC urin copper (bc accum in tissues)
58
How can we treat Wilson disease?
ATP7B limit pre - no high copper foods clear toxins - chelators (penicillamine), Zinc
59
What is the cause of Menkes disease?
X-linked; ATP7B (same gene as Wilson, but this is dif) - Metal disorders defective copper uptake in the intestines
60
How can we test for Menkes disease?
ATP7B DEC Serum copper DEC serum ceroluplasmin INC urin copper (bc accum in tissues)
61
What complications arise from Menkes disease?
ATP7B (X-linked) healthy until 2y, then regression hypotonia, seizures, FTT, skin laxity kinky hair
62
What treatment options are available for Menkes disease?
ATP7B (X-linked) give copper NO meds out there
63
Carrier freq for PKU
1/58
64
Which of these can lead to problems of myelination ofo the white matter?
PKU ---> ID due to this (Aminoacidoapthy)
65
Which of these can lead to problems w decreased pigmentation?
PKU ---> bc melanin is synth from tyrosine
66
Organic Acid Disorders are severe and typically ?
difficult to treat (Methylmalonic Acidemia Propionic Acidemia Isovaleric Acidemia)
67
If you think about Amino acids, if you remove the amine group,you end up w a ?
Organic acid! Methylmalonic Acidemia Propionic Acidemia Isovaleric Acidemia
68
When methylmalonic acid accumulates when it cannot be converted to Succinyl CoA...we have what resulting?
Organic Acid Disorder! Methylmalonic Acidemia it lowers the acidity of body pH to ~6.9 which is NOT sustainable
69
Why do those with Methylmalonic Acidemia become pancytopenic?
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
Methylmalonic Acidemia suppresses ? and ?
Bone marrow AND urea cycle --> pancytopenia + elev ammonia
71
Which Organic Acid detects elevated 3C?
Methylmalonic Acidemia
72
Which organic acid disorder detects elevated 5C?
Isovaleric Acidemia
73
With Urea Cycle Disorders, we have amino acids that naturally have a Nitrogen group. They are metabolized, then what?
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
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?
ASA and Citrullinemia
Medical Genetics
flashcards
Decks in class (14)
# Cards
Brainscape helps you reach your goals faster, through stronger study habits.
© 2026 Bold Learning Solutions. Terms and Conditions