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Biochemical Genetics > Aminoacidopathies > Flashcards

Aminoacidopathies Flashcards

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Biology 101 flashcards
1
Q

4 parts of amino acid structure

A

Amino group
Carboxylic group
Side chain
Hydrogen atom

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2
Q

3 “pathways” for amino acids

A

Anabolism
Conversation
Excretion

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3
Q

Enzyme deficient in PKU

A

Phenylalanine hydroxylase

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4
Q

Gene and inheritance in PKU

A

PAH, AR

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5
Q

Treatment for PKU

A

Dietary phe restriction

Dietary phe-free protein formula

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6
Q

Sapropterin

A

Oral form of BH4

Less response in those with no enzyme activity

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7
Q

Phenylalanine Ammonium Lyase Injection

A

Enzyme catalyzes alternative phe degradatio pathway

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8
Q

Large neutral aa

A

Compete with phe at the BBB to block phe entry into the brain

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9
Q

Risks with maternal PKU

A

Microcephaly, MR
IUGR
CHD

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10
Q

Tyrosinemia Type 1 enzyme deficiency

A

Fumarylacetoacetate hydrolase

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11
Q

Tyrosinemia Type 1 inheritance and gene

A

AR, FAH

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12
Q

Tyrosinemia treatment

A

Dietary phe and tyr restriction
Dietary supplement with phe/tyr-free formula
nitisinone
Liver transplant

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13
Q

MSUD enzyme deficiency

A

Branch chain keto-acid dehydrogenase deficiency

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14
Q

MSUD inheritance and gene

A

AR, BCKDHA/BCKDHB/DBT/DLDE3

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15
Q

MSUD Treatment

A

BCAA- free calories
Thiamine supplementation
Hemodialysis/hemofiltration

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16
Q

Homocystinuria enzyme deficiency

A

Cystathionine beta-synthase

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17
Q

Homocystinuria inheritance and gene

A

AR, CBS

18
Q

Treatment of Homocystinuria

A

Restrict met

Met-free formi.a

19
Q

Supplements to use to homocystinuria

A

Vit b6

Betaine

20
Q

Non-ketotic hyperglycemia enzyme deficiency

A

Glycine cleavage enzyme

21
Q

NKH inheritance and gene

A

AR, GLDC/AMT/GCSH

22
Q

Treatment for NKH

A

Sodium benzoate
Dextromthorphan
Glycine restriction

23
Q

Untreated PKU in Neonatal Period

A

Fair skin and hair pigmentation

Mousy/Musty odor

24
Q

Untreated PKU after infancy

A

Developmental delay
Autism, microcephaly, behaviour issues
Many with epilepsy, eczema

25
Q

PKU plasma AA

A

Increased Phe

Increased phe to tyr ratio

26
Q

PKU prenatal testing

A

Possible if familial mutation known

27
Q

Untreated Tyrosinemia Type 1 in infancy

A

Cabbage-like odor to urine
Liver and renal dysfunction
Rickets, poor growth
Neurologic crises

28
Q

Untreated Tyrosinemia Type 1 after infancy

A

Typically death by age 10

29
Q

Tyrosinemia Type 1 plasma AA

A

Elevated tyr

Elevated succinylacetone in blood

30
Q

Prenatal dx of Tyrosinemia Type 1

A

Molecular testing if familial mutation known

Succinylacetone measured in amniotic fluid

31
Q

Untreated MSUD 12-24 hours after birth

A

Maple syrup odor in urine and ear wax

32
Q

Untreated MSUD 5 days after birth

A

Irritability and decreased feeding

Encephalopathy/ cerebral edema

33
Q

Untreated MSUD 7-10 days after birth

A

Coma
Respiratory failure
Death in weeks

34
Q

MSUD AA profile

A

Elevated: leucine, isoleucine, valine
Presence: allo-isoleucine

35
Q

MSUD prenatal dx

A

Molecular testing if familial mutation is known

BCKD enzyme activity on amnio/CVS

36
Q

Untreated Homocystinuria Features

A

Marfanoid skeletal changes
Ectopia lentis
Neuropsychiatric disease
Veinous/Arterial Thromboembolism

37
Q

Homocystinuria plasma AA

A

Elevated: homocysteine and methionine

Low/absent: cysteine

38
Q

Untreated NKH symptoms

A

Intractable neonatal seizures
Hypotonia
Encephalopathy within first few days of life

39
Q

NKH plasma AA

A

Abnormal CSF to plasma glycine ratio

40
Q

Prenatal Dx for NKH

A

Molecular testing of familial mutation

41
Q

Prenatal dx for Homocystinuria

A

Molecular testing of familial mutation
CBS enzyme activity assay in amniocytes (not CVS)
Amniotic fluid homocysteine levels

Biochemical Genetics (9 decks)

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