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MS3 - Clinical biochem > Metabolic disorders > Flashcards

Metabolic disorders Flashcards

1
Q

Phenylketonuria belongs to what group of disease?

A

Inherited Metabolic Disorders (IMD)

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2
Q

Mx of Phenylketonuria

A

Low phenylalanine diet

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3
Q

Types of Inherited Metabolic Disorder

A

Disorders of complex molecules
Intoxication
Energy insufficiency

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4
Q

Disorders of complex molecules def? Eg?

A

Disturbance to synthesis or catabolism of complex molecules

Eg lysosomal storage disorders

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5
Q

Intoxication def? Sx?

A

Sx due to acute or progressive intoxication leading to accumulation of toxins
Acute presentation: vomiting, coma, liver failure
Or chronic: progressive development delay

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6
Q

Energy insufficiency, where? Sx? Eg?

A 
Defects expressed in liver, myocardium, muscle and brain
Sx:
- Hypoglycaemia
- Hyperlacticacidaemia
- Hypotonia

Eg. Fatty acid oxidation defects

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7
Q

Lysosomal storage disorder age of presentation

A

3-6 months

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8
Q

Presentation of lysosomal storage disorders

A

Neurological symptoms
Hepatosplenomegaly
Respiratory, cardiac and bone problems

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9
Q

Progression of lysosomal storage disorders

A

Slowly progress

Become life threatening

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10
Q

Mx of Lysosomal storage disorders

A 
Supportive
Enzyme replacement therapy
Bone marrow transplant
Substrate reduction therapy
Gene therapy
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11
Q

Hyperammonaemia definitin

A

Premature neonate NH3 > 150 umol/L
Term neonate > 100 umol/L
Infant & child > 40 umol/L

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12
Q

Sx of hyperammonaemia

A 
Acute tachypnoea
Lethargy
Vomiting
Convulsions
Encephalopathy
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13
Q

Acute Mx of hyperammonaemia

A 
I. Stop protein intake
II. High calorie infusion
III. Arginine – to ‘drive’ urea cycle
IV. Promote ammonia removal
• Sodium benzoate/phenylbutyrate
• Haemofiltration (NH3 >300 umol/L)
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14
Q

Chronic Mx of hyperammonaemia

A

I. Referred to paediatric metabolic clinic for longterm follow up
II. Low protein diet
III. Benzoate & Phenylbutyrate
IV. Arginine & Citrulline
V. Emergency regime to avoid catabolism during intercurrent illness

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15
Q

Long term consequences of hyperammonaemia / urea cycle defects

A

Significant developmental delay

Liver transplant required

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16
Q

MCAD

A

Medium Chain Acyl-CoA Dehydrogenase deficiency

17
Q

Age of MCAD presentation

A

4 months - 3 yrs

18
Q

MCAD definition

A

Metabolic crisis precipitated by fasting , illness or operation

19
Q

Diagnosis of MCAD

A

– organic acids in urine
– blood spot acylcarnitines - increased octanoyl carnitine
– mutation analysis - common mutation K329E

20
Q

Sx of Neonate/infant MCAD

A 
Hypoglycaemia
Irritability
Tachypnoea
Hypothermia
Apnoea
Seizures
21
Q

Sx of Child MCAD

A 
Hypoglycaemia
Sweating
Apathy
Nausea
Headaches
Seizures
Coma
22
Q

Acute Mx of MCAD

A

– High dose glucose IV + insulin

– IV carnitine

23
Q

Chronic Mx of MCAD

A

Avoid fasting
Diet low fat, high carbohydrate
Emergency regime
Oral carnitine

24
Q

Response to fasting

A

Glycogenolysis + GNG

Alternative energy substrates - fatty acid/ketone oxidation

25
Q

Albumin synthesis site

A

Liver

26
Q

Albumin half life

A

~20 days

27
Q

Function of albumin

A

Transport

Oncotic pressure

28
Q

Normal albumin reference range

A

35 - 50 g/L

29
Q

Causes of hypoalbuminaemia

A 
Liver failure
Malabsorption
Sever illness - sepsis
Inflammation - trauma
Malignancy
Nephrotic syndrome
Burns
Pregnancy
CCF
30
Q

Consequences of hypoalbuminaemia

A

Oedema

Calciuria - excess free calcium

31
Q

Normal urine protein level

A

<150 mg/24h

32
Q

Normal urine albumin level

A

< 30 mg/24h

33
Q

Urine dipstick threshold for albumin detection

A

> 300 mg/L

34
Q

Ix for proteinuria

A

Urine dip

Albumin creatinine ratio

35
Q

Normal Albumin creatinine ratio

A

<3.0 g/mol

36
Q

When shouldn’t albumin creatinine ratio be performed?

A

During acute illness

37
Q

Phenylketonuria genetics?

A

Mutations of phenylalanine hydroxylase gene

38
Q

Phenylketonuria diagnosis?

A 
increased plasma phenylalanine (substrate) and
reduced tyrosine (product)

MS3 - Clinical biochem (11 decks)

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