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Racp > Metabolics > Flashcards

Metabolics Flashcards

1
Q

Respiratory alkalosis

A

Urea cycle defect

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2
Q

Urine orotic acid

A

Elevated in OTC deficiency

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3
Q

Jaundice

A 
Galactosemia
Fructose intolerance
Tyrosinemia
Crigler Najjar (unconj)
Dubin Johnson (conj)
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4
Q

Liver failure

A 
Galactosemia
fructose intolerance
Tyrosinemia 
GSD IV
Mitochondrial
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5
Q

Hepatomegaly

A

GSD I and III
MPS 1 and II
Gaucher
Niemann Pick

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6
Q

High ammonia
Ketosis
neutropenia. Thrombocytopenia

A

MmA or PPA

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7
Q

Sweaty feet smell

A

Isovaleric acidemia

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8
Q

RTA
Cataracts
E colii sepsis
Hypoglycemia

A

Galactosemia

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9
Q

Smith Lemli Opitz syndrome

A

Cholesterol biosynthesis

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10
Q

Subdural

A

GA1

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11
Q

Urine dnph

A

Maple syrup urine disease

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12
Q

Hypoglycemia
Liver and kidney failure
After introduction of fruit juice

A

Fructose intolerance

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13
Q

GALK deficiency

A

Cataracts

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14
Q

Cant hydroxylate phenylalanine to tyrosine

A

Pku

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15
Q

Treatmment of tyrosinemia 1

A

Nitisinone NTBC
Stops production of toxic succinylacetone

Low tyrosine, low phenylalanine diet

Previously liver transplant

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16
Q

2 forms of homocystinuria

A

1 - pyridoxine responsive.
Folate supplementation. Sometimes betaine
Less likely to be picked up on newborn screen

2 - not pyridoxine responsive
Betaine supplementation. Sometimes b12/folate

17
Q

Amino acidopathies

A

Msud
Tyrosinemia
Homocystinuria
Pku

18
Q

Presentation of msud

A 
1-4weeks old
Hypoglycemia
Variable metabolic acidosis
(Cerebral edema)
Alternating hypotonia /hypertonia, opisthotonos, seizures
19
Q

Treatment of high ammonia

A

Sodium benzoate - alternative pathway for elimination
Iv dextrose - suppress catabolism of protein
Arginine - treat deficiency

Dialysis
Liver transplant

20
Q

Presentation of PA and MMA

A 
Poor feeding
Hypoglycemia 
Ketosis
Hyperglycinemia
Neutropenia. Thrombocytopenia
High ammonia
21
Q

Treatment of PA and MMA

A

Mma - b12

Restrict protein
Carnitine supplementation
Abx to reduce gut production

22
Q

Treatment of isovaleric

A

Restrict leucine

Give glycine to conjugate isovaleric acid

23
Q

Glutaric acidemia 1

Presentation

A

Macrocephaly
Stroke like episodes basal ganglia
- dystonia

24
Q

GA1 treatment

A

Restrict protein

Medical food

25
Q

Similar presentation to Reye syndrome

A

MCAD

26
Q

Presentation VLCAD LCHAD

A

Myopathy
Cardiomyopathy

LCHAD retinopathy

27
Q

Treatment of Fatty acud

A

MCAD acoid MCT

Long chain - provide medium chain fattt acids

28
Q

Treatment of X linked adrenileukodystrphy

A

Bmt

29
Q

Alper

A

Cerebral degeneration

Liver disease

30
Q

Leigh

A

Subacute necrotising encephalomyelopathy

31
Q

Kearn sayes

A

Progressive external ophthalmoplegia

32
Q

MIDD

A

Maternally inherited diabetes and deafness

33
Q

Ga1

A

Basal ganglia stroke

34
Q

Ketoacidosis. Lactic acidosis

A

Organic acidemia

35
Q

Treatment

A

Benzoate
Dialysis
Carnitine

Racp (21 decks)

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