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TAS > Metabolic > Flashcards

Metabolic Flashcards

1
Q

How do you calculate anion gap

A

(Na+K+) - (chloride + bicarbonate)

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2
Q

Most common organic acidaemias

A

Methylmalonic and propionic acidaemia

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3
Q

The Urea Cycle part 1

A

Glutamate + acetyl-CoA forms N-acetylglutamate

Enzyme = N-acetylglutamate synthetase

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4
Q

Urea Cycle part 2

A

Ammonia + bicarbonate forms carbamoyl phosphate

Only in presence of N-acetylglutamate

catalysed = carbamoyl phosphate synthetase

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5
Q

Urea cycle part 3

A

Carbamoyl phosphate + ornithine = citrulline

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6
Q

Where does part 1- 3 occur?

A

Mitochondrial matrix

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7
Q

Urea Cycle part 4

A

Occurs in cytoplasm

Citrulline + aspartate to form arginosuccinate

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8
Q

Urea Cycle part 5

A

Argininosuccinate lyase cleaves argininosuccinate to arginine

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9
Q

Urea Cycle Part 6

A

Arginine is hydrolysed to urea + ornithine

Ornithine is transported to mitochondrion for part 3

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10
Q

Normal ammonia levels

A

<100

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11
Q

How are urea cycle disorders inherited

A

Autosomal recessive

Except ornithine transcarbamylase = X-linked

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12
Q

Acute management of Urea cycle disorders

A

Stop feeds
Commence 10% dextrose to reduce nitrogen load on cycle
IV ammonia
IV arginine

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13
Q

Chronic management of urea cycle disorder

A

Low protein diet

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14
Q

Gluconeogenesis

A

Synthesis of glucose from non-glucose precursors

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15
Q

Glycolysis

A

Oxidation of glucose to pyruvate with generation of ATP

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16
Q

Glycogenesis

A

Conversion of excess glucose to glycogen

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17
Q

Glycogenolysis

A

Degration of glycogen to glucose

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18
Q

GSD 1

A

Deficiency of glucose-6-phosphate

Inability to mobilize glucose from glycogen or utilise glucose from gluoneogeneis

19
Q

Why do patients with GSD have heptaomegly

A

Glycogen storage

20
Q

Which GSD’s present with hepatic presentation

A

Ia
Ib
III
IV
VI IX O

21
Q

Which GSD’s present with muscular presentation

A

V, VII, X, XI, XII, XIII

22
Q

Which present with a cardiac presentation

A

II
III

23
Q

What is the most common muscle glycogenesis

A

GSD 5 - McArdle’s disease

24
Q

How does McArdle’s present

A

Muscle pain, cramps and fatigue during brief intense exercise
Resume exercise after brief rest

25
Q

What is cause of McArdle’s

A

Lack of pyruvate available for production of acetyl-CoA for Kreb’s cycle

Defiency of my-phosphorylase enzyme -> reduced glycolysis in muscle fibres and reduced production of pyruvate

26
Q

pathophysiology of PKU

A

Defiency of phenylalanine hydroxyls in the liver - would usually convert phenylalanine to tyrosine

Phenylalanine can cross BBB

27
Q

What smell is characterisistic of PKU

A

Mousy odour in sweat or urine

28
Q

Ix of PKU

A

Must be before day 10 of life to prevent neurodevelopment complications

29
Q

How is PKU managed

A

Diet - restriction of natural proteins, low protein diet
Limit great feeding
Monitoring ohenylalanine leves

30
Q

What is the gene that codes for phenylalanine hydroxyls

A

Chromosome 12q23.2

31
Q

Which is most common fatty acid disorder

A

MCUD

32
Q

What are the principal ketone bodies

A

B-hydroxybutyrate
Acetoacetate

33
Q

Three stages of fatty acid metabolism

A

Fatty acids mobilised by lipase into mitochondria
medium and short chains permeate the mitochondrial membrane

34
Q

Fatty acid oxidation disorder presentation

A

Hypoketotic hypoglycaemia
Cardiomyopathy, arrhythmias or conduction defects
Myopathy or acute rhabdomyolysis

35
Q

When does MCAD show

A

Present in first few days of life

36
Q

What is increased in fatty acid oxidation disorders

A

Carnitine and acylcarnitine levels and urine organic acids are high

37
Q

Maple syrup urine disease

A

deifinecy in branched chain a ketoacid dehydrogenase

Dysfunction in amino acid VIL - valine, isoleucine, leucine

38
Q

What causes maple syrup urine odour

A

Isoleucine metabolite

39
Q

Pathophysiology of maple syrup disease

A

Increase in valine isoleucine and leucine

Interrupts large neutral amino acid transport into the brain - tyrosine and tryptophan

Less dopamine and serotonin in the brain

40
Q

Pompe disease - GSD type 2 pathophysiology

A

Insuffiency of acid alpha- glucosidase

Lysosomes can’t break down glycogen -> glycogen build up and caused damage

41
Q

Differential diagnosis of hypoketotic hypoglycaemia

A

Hyperinsulin - ketones negative as insulin makes body feel in fed state
MCAD
Liver failure
Mitochondria disorders

42
Q

PomPe disease - Type 2 GSD enzyme defiency

A

alpha 1- 4glucosidase

Will have normal glucose levels

Only GSD with heart

PomPe breaks the PumP = 4 p’S

43
Q

what happens if glycogen accumulates in heart liver and muscle

A

cardiomegaly
hepatomegaly
hypotonia

44
Q

Cori disease - type 3 GSD

A

hypoglycemia
ketoacidosis

TAS (18 decks)

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