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DEMS > Inborn errors of metabolism > Flashcards

Inborn errors of metabolism Flashcards

1
Q

PKU is a deficiency of what?

A

Phenylalanine hydroxylase (PAH)

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2
Q

What is the treatment of PKU?

A

Remove phenylalanine from diet

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3
Q

What reaction does PAH regulate?

A

Phenylalanine -> tyrosine

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4
Q

Tyrosine is a precursor for what?

A

DA, L-dopa, melanin

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5
Q

What is the inheritance pattern of PKU?

A

Aut Rec

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6
Q

What is the phenotype of PKU?

A

Hyperphenylalaninemia, mental retardation, white matter hyperintensities, seizures, light hair and skin

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7
Q

What kind of amino acids are found in the urine of a patient with MSUD?

A

Branched-chain ketoacids

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8
Q

What is the inheritance pattern of MSUD?

A

Aut Rec

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9
Q

MSUD is a deficiency of what?

A

Branched chain alpha ketoacid dehydrogenase (BCKD)

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10
Q

What is the acute treatment of MSUD?

A

Eliminate dietary protein intake. Treat cerebral edema if present. Hemodialysis maybe..

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11
Q

What is the chronic therapy of MSUD?

A

Protein restricted diet supplemented with branched chain amino acid free medical foods (MSUD “coolers”).

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12
Q

Tyrosenemia type I is a deficiency of what?

A

Fumarylacetoacetate hydrolase (FAH)

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13
Q

What is the inheritance pattern of Tyrosenemia type I?

A

Aut Rec

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14
Q

What are the 3 presenting forms of Tyrosenemia type I?

A
  1. 1-6mo: liver disease
  2. late infancy: rickets due to renal tubulopathy (Fanconi syndrome) with no obvious liver failure
  3. porphyria-like attack at any age
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15
Q

In Tyrosenemia type I, which molecules build up which are toxic to the liver and nerves?

A

Fumarylacetoacetate and succinylacetone

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16
Q

What is the treatment of Tyrosenemia type I?

A

NTBC which inhibits an enzyme which causes further buildup of tyrosine but prevents production of FAA and succinylacetone. Restrict dietary tyrosine.

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17
Q

Palmoplantar keratosis is a feature of which disease?

A

Tyrosenemia type I; buildup of tyrosine

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18
Q

What can Tyrosenemia type I do to the eye?

A

Tyrosine can crystalize in the cornea

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19
Q

What is the clinical presentation of Alkaptonuria?

A

Black urine, black pigmentation of cartilage and collagen, degenerative arthritis from fourth decade.

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20
Q

Which amino acidopathy presents similar to Marfan if left untreated?

A

Homocysteinuria

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21
Q

In homocysteinuria, which two molecules are elevated in blood and urine?

A

Homocysteine and methionine

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22
Q

Homocysteinuria is a deficiency of what?

A

Cystathionine b-synthase (CBS)

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23
Q

Thromboembolism can be a manifestation of which amino acidopathy?

A

Homocysteinuria

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24
Q

Premature atherosclerotic disease can be a manifestation of which amino acidopathy?

A

Homocysteinuria

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25
Q

What is the inheritance pattern of Homocysteinuria?

A

Aut Rec

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26
Q

Which vitamin is given as a treatment for Homocysteinuria?

A

B6 (Pyridoxine)

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27
Q

What is the treatment of Homocysteinuria?

A

B6 (if responsive), restrict dietary protein, oral betaine

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28
Q

What are the general manifestations of urea cycle disorders?

A

Encephalopathy, coma, irreversible neurologic damage, or death.

29
Q

Why is it difficult to detect a urea cycle disorder?

A

Because ammonia levels must be checked. Always check ammonia in a coma.

30
Q

What are some common triggers of hyperammonemic crises in UCD patients?

A

Infections, fevers, valproate, vomiting, lots of exercise, chemotherapy.

31
Q

What is the most common urea cycle disorder?

A

Ornithine Transcarbamylase (OTC) Deficiency

32
Q

What is the inheritance pattern of OTC Deficiency?

A

X-linked

33
Q

What is the treatment for acute OTC Deficiency?

A

Ammonia scavenging agents

34
Q

What are two ammonia scavenging agents?

A

Sodium phenylacetate and Sodium benzoate

35
Q

What are some treatment strategies for OTC Deficiency?

A

Dietary protein restriction, ammonia scavengers, consider liver transplant

36
Q

The majority of lysosomal storage diseases (LSDs) are inherited in what fashion? What is the exception?

A

Aut Rec. Exceptions are Fabry and Hunter disease (X-linked).

37
Q

Are LSDs usually acute or gradual in onset?

A

Gradual - buildup of molecule and then organ defect leads to dysfunction.

38
Q

What is the deficient enzyme in Fabry disease?

A

alpha-galactosidase

39
Q

What is the deficient enzyme in Gaucher disease?

A

Glucocerebrosidase (beta-glucosidase)

40
Q

What is the deficient enzyme in Tay Sachs Type I?

A

Hexosaminidase A

41
Q

What is the incidence of all lysosomal storage diseases combined?

A

1:5,000

42
Q

Cherry red spots are indicative of which LSD?

A

Tay Sachs

43
Q

Blindness is a complication of which LSD?

A

Tay Sachs

44
Q

Renal failure is a complication of which LSD?

A

Fabry

45
Q

What are the skin manifestations of LSDs?

A

Courseness

46
Q

What are the skull (brain) manifestations of LSDs?

A

Macrocephaly and cognitive regression

47
Q

What are the eye manifestations of LSDs?

A

Corneal clouding and cherry red spot

48
Q

What are the ENT manifestations of LSDs?

A

Macroglossia with sleep apnea (complication)

49
Q

What are the liver manifestations of LSDs?

A

Hepatosplenomegaly with preserved hepatic function

50
Q

What are the renal manifestations of LSDs?

A

Proteinuria (Fabry)

51
Q

What are the skeletal manifestations of LSDs?

A

Dysostosis multiplex, joint stiffness, short stature

52
Q

What is Dysostosis Multiplex?

A

Abnormally bony structure on x rays; vertebral beaking, broad bases of metacarpals and phalanges, scoliosis

53
Q

“Crumpled tissue paper” appearance in cytoplasm of bone marrow cells is indicative of which LSD?

A

Gaucher

54
Q

An Erlenmyer flask deformity of bones is indicative of which LSD?

A

Gaucher type I - bone marrow infiltration

55
Q

What is the clinical presentation of Gaucher type I?

A

Fatigue, bony pain, enlarging abdomen, hepatosplenomegaly, anemia/low platelets.

56
Q

Which organs are involved in Gaucher?

A

Liver, spleen, bone marrow (no CNS)

57
Q

What is the treatment for Gaucher?

A

ERT

58
Q

What is the treatment for Tay Sachs?

A

Supportive

59
Q

What is the treatment for Fabry?

A

ERT

60
Q

What is the treatment for Pompe disease?

A

ERT

61
Q

What is the deficient enzyme in Pompe disease?

A

Alpha-glucosidase

62
Q

What is the clinical presentation of Tay Sachs type I?

A

Blindness, seizures, mental/motor deterioration, no hepatosplenomegaly

63
Q

What is the clinical presentation of Pompe disease?

A

Infant with progressive muscle weakness and LVH. Adult with proximal muscle weakness and respiratory weakness (sleep apnea).

64
Q

What is the clinical presentation of Fabry?

A

Acroparesthesia; pain in palms/soles, esp with fevers. Proteinuria and renal failure. Left ventricular hypertrophy/stroke. Dark red angiokeratomas (bathing suit distribution).

65
Q

What is the deficient enzyme in Hunter disease?

A

Iduronate sulfatase

66
Q

What is the deficient enzyme in Hurler disease?

A

Alpha iduronidase

67
Q

SCID is caused by a deficiency in what enzyme?

A

Adenosine deaminase (ADA)

68
Q

Lesch-Nyhan is caused by a deficiency in what enzyme?

A

HPRT

DEMS (4 decks)

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