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Survey of Human Genetic Disorders First Half > Inborn Errors of Metabolism--Small Molecules > Flashcards

Inborn Errors of Metabolism--Small Molecules Flashcards

1
Q

What do all urea cycle disorders cause an elevation in? What should a person limit?

A

Ammonia

Limit protein

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2
Q

What is the genetic cause of Ornithine transcarbamylase (OTC) deficiency?

A

OTC (X-linked)

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3
Q

What blood tests do you perform for Urea Cycle Disorders?

A

Plasma amino acids
Ammonia levels
Orotic Acid Level

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4
Q

Is OTC on NBS?

A

No

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5
Q

What do you test for with Organic Acidemias?

A

Urine organic acids (will be high)
Low pH in the blood
Low CO2 (bicarbonate) in the blood
Acylcarnitine

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6
Q

What disorder smells like sweaty socks?

A

Isovaleric Acidemia

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7
Q

What is the treatment for organic acidemias?

A

Limit protein intake
Metabolic formula
Carnitine (clears toxins)

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8
Q

What disorder has problems breaking down leucine?

A

Isovaleric Acidemia

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9
Q

What is the gene involved in Isovaleric Acidemia?

A

IVD (AR)

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10
Q

What is the gene involved in Methylmalonic acidemia (MMA)?

A

MMUT (AR)

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11
Q

What are the genes related to Proprionic Acidemia?

A

PCCA
PCCB

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12
Q

What do the labs look like in Proprionic Acidemia?

A

Elevated C3 in acylcarnitine profile
Elevated 3-hydroxypropionate
Elevated glycine
High lactic acid
High anion gap

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13
Q

What disorder smells like a musty/mouse?

A

PKU

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14
Q

What disorder smells fishy?

A

Trimethylaminuria

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15
Q

What disorder smells like cabbage?

A

Tyrosinemia

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16
Q

What is the gene related to Phenylketonuria?

A

PAH (AR)

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17
Q

What is the gene related to Phenylketonuria?

A

PAH (AR)

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18
Q

What are the teratogenic effects of Maternal PKU syndrome?

A

Heart defects
Microcephaly
Developmental disability

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19
Q

What disorder has elevated phenylalanine levels?

A

Phenylketonuria (PKU)

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20
Q

What are the medications used to treat PKU?

A

Sapropterin
Palynziq

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21
Q

What is the gene associated with Tyrosinemia Type I?

A

FAH

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22
Q

What levels are increased in Tyrosinemia Type I and what is the chemical that causes injury in the body?

A

Tyrosine

Injury from succinylacetone

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23
Q

What does injury from succinylacetone cause in the body?

A

Liver cancer

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24
Q

What is the drug used in Tyrosinemia

A

Nitisinone clears toxins (never develop liver CA)

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25
Q

What is the gene associated with Alkaptonuria?

A

HGD

26
Q

What test do you use to detect Alkaptonuria?

A

Urine organic acids
Homogentisic acid

27
Q

What is the phenotype of Alkaptonuria?

A

Dark staining of urine and skin
Joint inflammation
Adult dx buildup in spine

Takes years to diagnose (adulthood)

28
Q

What is the medication used to treat Alkaptonuria?

A

Nitisinone clears toxins

29
Q

What genes are associated with Maple Syrup Urine Disease?

A

BCKDHA
BCKDHB
DBT

30
Q

What amino acids build-up in Maple Syrup Urine Disease? Which one causes brain swelling?

A

Leucine, isoleucine, and valine

Leucine can cause brain swelling and can lead to coma.

31
Q

What are the symptoms of Maple Syrup Urine Disease?

A

Failure to Thrive
Developmental delay
Seizures
Movement problems

32
Q

What are the genetic causes of Non-Ketotic Hyperglycinemia?

A

AMT
GLDC
GCSH

33
Q

What is the phenotype of Non-Ketotic Hyperglycinemia?

A

Intractable epilepsy
Devastating

34
Q

What are the medications used to treat seizures in Non-Ketotic Hyperglycinemia?

A

Sodium Benzoate
Dextromethorphan

35
Q

What amino acid builds up in Non-Ketotic Hyperglycinemia and why is the condition difficult to treat?

A

Glycine

The body naturally produces glycine so it is impossible to just limit it in the diet.

36
Q

What blood tests do you look at in Homocystinuria?

A

Plasma amino acids (methionine)
Homocysteine levels

37
Q

What is the phenotype of Homocystinuria?

A

Marfanoid habitus
Ectopia lentis and/or myopia
Thromboemolism (in adults)

38
Q

What amino acids build up in Homocystinuria?

A

Increased homocystine and methionine

39
Q

What drugs treat Homocystinuria?

A

Betaine
Vitamin B6 (pyridoxine)

40
Q

What gene is associated with Glutaric Aciduria Type 1?

A

GCDH

41
Q

What tests do you perform in Glutaric Aciduria Type 1?

A

Urine Organic Acids (glutaric acid)

42
Q

What is the phenotype of Glutaric Aciduria Type 1?

A

Risk for basal ganglia stroke in childhood
Causes movement disorder

After age 6 years, stroke risk resolves and they can lead healthy lives (with diet regulation)

43
Q

What do you limit in the diet of someone with Glutaric Aciduria Type 1?

A

Lysine and tryptophan free diet

Supplement with carnitine

44
Q

What is the gene associated with Galactosemia?

A

GALT

45
Q

What is the phenotype in Galactosemia?

A

Cataract
Jaundice
Liver damage
Lethargy
*E. coli sepsis

46
Q

What is the Duarte variant in Galactosemia?

A

GALT variant associated with reduced enzyme activity but is typically asymptomatic (no management)

47
Q

What labs are tested in Galactosemia?

A

GALT enzyme testing
Gal-1-p
Urine galactol

48
Q

What is the gene related to Hereditary Fructose Intolerance?

A

ALDOB

49
Q

What is the phenotype of Hereditary Fructose Intolerance?

A

N/V
Liver failure
High lactate
Hypoglycemia

50
Q

What labs do you order with Hereditary Fructose Intolerance?

A

Only genetic testing

Cannot give individuals fructose

51
Q

What is the gene associated with Wilson disease?

A

ATP7B (AR)

52
Q

What is the mechanism of Wilson Disease?

A

Accumulation of Copper in the liver because ATP7B is transporter

53
Q

What is the phenotype of Wilson disease?

A

*Kayser-Fleischer ring (accumulation of copper around iris)
Liver failure
Personality disorders/psychosis
Movement disorder

54
Q

What medications are used to treat Wilson Disease?

A

Chelators (Penicillamine, Trientine)
Zinc

55
Q

What do lab values look like for Wilson disease?

A

Low serum copper in blood
Low ceruloplasmin in blood
High urine copper

Copper levels are HIGH in tissue

56
Q

What is the gene associated with Menkes disease?

A

ATP7A (X-linked)

57
Q

What is the phenotype of Menkes disease?

A

Healthy until ~2 months
Loss of developmental milestones
Hypotonia
Seizures
FTT
Skin Laxity
*Kinky hair

58
Q

What is the treatment for Menkes?

A

Copper histidinate

59
Q

What do labs for Menkes disease look like?

A

Low serum copper in blood
Low ceruloplasmin in blood
High urine copper

(Looks the same as Wilson)

60
Q

Which IEM are picked up by NBS?

A

Urea Cycle Disorders (Except OTC Def)

Organic Acid Disorders

Aminoacidopathies (Except Alkaptonuria)

Fatty Acid Oxidation Disorders

Survey of Human Genetic Disorders First Half (16 decks)

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