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RACP Written > Metabolic Medicine > Flashcards

Metabolic Medicine Flashcards

1
Q

What is MPS 1?

A

Hurler syndrome

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2
Q

What are the facial features of Hurler syndrome?

A

COARSE facial features ie prominent forehead, flat nasal bridge, enlarged lips, large tongue, corneal clouding, scoliosis

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3
Q

What is the mild form of Hurler syndrome?

A

Scheie syndrome (symptoms present in second decade of life)

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4
Q

What is the usual coarse of presenation for Hurler syndrome?

A

Normal at birth but skeletal abnormalities and hepatosplenomegaly in first year of life

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5
Q

What is MPS 2?

A

Hunter syndrome

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6
Q

What is the inheritance of Hunter? How is it different to Hurler?

A

x-linked for Hunter (Think a Hunter as a cross bow)
Hurler is aut reciessve

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7
Q

What is the principle physiology behind MPS?

A

Deficiency in the enzema required to break down MPS. Different enzymes affected in MPS 1 and 2

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8
Q

What is the characteristic skin change for MPS2?

A

Pebble skin

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9
Q

What behavioural things can MPS 2 present with?

A

ADHD/Autism/OCD/Aggression

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10
Q

What is the treatment for MPS?

A

Remember enzyme deficiency so REPLACE enzyme or BMT

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11
Q

What do protein/amino acid disorders generally present with? Symptoms and electrolytes wise

A

High ammonia, low BSL and encephalopathy/coma.
Essentially build up of toxic substances because cannot be broken down.
Typically present in phases of high E requirement ie newborn, puberty

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12
Q

Name 5 protein/amino acid disorders

A

PKU, maple syrup urine disease, MMA, proprionic aciduria, glutaric aciduria

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13
Q

What is PKU?

A

deficiency in phenylalanine hydroxylase causing high blood levels of Phenylalanine

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14
Q

What is the presentation for PKU?

A

Untreated PKU can cause mod-severe mental retardation. Also behavioural disturbance, hyperactivity, destructiveness, self-injurym light hair, tremor etc.
Normal development with dietary modification.

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15
Q

What is the consequence of untreated PKU in mums?

A

Permanent mental retardation in babies

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16
Q

What is the target Phe level when treating PKU?

A

<400

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17
Q

What is the classic presentation for maple syrup urine disease? (Remember, part of amino acid disorders)

A

Normal delivery and pregnancy and starts deteriorating with no reason, not responsive to symptomatic therapy. Unusual urine odour- maple syrup.
Treatment: STOP protein intake, use carbs and fats instead

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18
Q

What is the treatment for high ammonia?

A

Sodium benzoate, sodium phenylbutyrate

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19
Q

What are examples of carbodhydrate metabolic disorders?

A

Galactossemia, hereditary fructose intolerance, GLUT1/2 def, SGLT1/T2 def

Galactossemia= galactose1 phosphatase activity

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20
Q

What is the classical presentation for galactossemia?

A

Progressive symptoms start post start of milk feeds on Day 3-4 with vomiting, diarrhoea, jaundice, liver dysfn, E.Coli sepsis, cataracts.
Infertility in females

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21
Q

What metabolic disorder presents with E.Coli sepsis?

A

Galactossemia

22
Q

What type of disorder is Pompe’s disease?

A

Glycogen storage disorder- type II.
Essentially build up of glycogen in muscles and lysosomes try and accumulate but can only do so much

23
Q

What does Infantile Pompe’s disease present with?

A

Cardiomegaly, cardiomyopathy, profound hypotonia, macroglossia, feeding difficulties, FTT, respiratory insufficiency, congestive cardiac failure
(Note median age of death from Pompe is 9 months)

24
Q

What is the treatment for Pompes disease?

A

Enzyme replacement- has improved survivval

25
Q

What does SGLT-1 do?

A

Absorption of glucose and galactose so deficiency = absorption disorder

26
Q

What type of disorder is ornithine transcarbamylas deficiency?

A

Urea cycle disorder

27
Q

What is the presentation and inheritance of ornithine transcarbamylase def?

A

X-linked recessive.
Neonatal period: Poor feeding day 1-5 and then vomiting, lethargy, progressive rapid deterioration due to high ammonia.
Late onset: Loss of appetite, cyclical vomiting, lethargy, developmental delay, hepatomegaly.
Progressive liver disease- treat with liver transplant.

28
Q

What type of disorder is MCAD?

A

Fatty acid oxidation disorder
(Unable to utilise glucose- because remember, fatty acids need coA and carnitine to get into the mitochondrial membrane for production of energy)

29
Q

What is the presentation for MCAD?

A

Hypoketotic hypoglycemia.
Vomiting, drowsiness, encephalopathy, hepatomegaly, liver dysfn and seizures.
Can also present with sudden death.

30
Q

What is the treatment for MCAD?

A

Intravenous dextrose.
Avoid prolonged fasting and supplement during intercurrent illness

31
Q

What are examples of lysosomal storage disorders?

A

MPS, Niemann Pick, Krabbe and Frabrys disease

32
Q

Which two lysosomal storage disorders are X linked?

A

MPS 2 and Frabyr’s disease

33
Q

What is the classic phenotype for MPS?

A

Macrocephaly, progressively coarse facial features, macroglossia, corneal clouding, hepatosplenomegaly, inguinal and umbilical hernias

33
Q

What is the classic phenotype for MPS?

A

Macrocephaly, progressively coarse facial features, macroglossia, corneal clouding, hepatosplenomegaly, inguinal and umbilical hernias

34
Q

What is the diagnostic test for MPS?

A

Look at lysosomal storage enzymes, mutation testing and urine metabolic screen which will show increased GAGs (urine glycosaminoglycans)

35
Q

Treatment for MPS?

A

Multi-disciplinary. HSCT and enzyme replacement.
NO TREATMENT FOR MPS 3 (Sanfillipo)

36
Q

What are the three ‘common’ peroxismal disorders?

A

Zelwegger, infantile Refsum disease and X-linked adrenoleukodystorphy.

37
Q

What is the clinical presentation for Zelwegger?

A

Dysmorphic features: flat nasal bridge, large tongue, widely spaced eyes.
Structural brain abnormalities: hypotonia, seizures, deafness
Bony abnormalities
Hepatomegaly
Adrenal insufficiency

38
Q

What are some clinical features of mitochondrial disorders?

A

neonatal lactic acidaemia, unexplained multi-organ failure, cardiomyopathy, conduction defects, encephalopathy, sideroblastic anaemia,SNHL.
Organs dependent on aerobic metabolism ESPECIALLY affected

39
Q

Where is the mutation for mitochondrial disorders?

A

Can be in mitochondrial DNA or nuclear DNA.

40
Q

What is the diagnostic testing for mitochondrial disorders?

A

Resting blood lactate and pyruvate. Urine organics, CSF lactate and pyruvate.
Then muscle and liver biopsy and then DNA testing

41
Q

What is Leigh disease?

A

Mitochondrial disorder
Primary affects infants and young children, with variable clinical features.
Central hypotonia.
Developmental regression or arrest and brainstem/basal ganglia involvement

42
Q

What is MELAS?

A

Mitochondrial encephalpathy, lactic acidosis and stroke-like episodes.
Recurrent stroke like episodes with progressive neuromuscular abnormalities.
Some individuals can have migraine headaches

43
Q

What is the presentation of maternal PKU in babies?

A

Remember Phe is teratogenic. Presents kind of like FASD
Microcephaly, thin upper lip, long and smooth philtrum, profound intellectual impairment, congenital cardiac defect

44
Q

What is the phenotypic features of Menke’s diseases?

A

Wool hair, Hypopigmentation, pudgy cheeks, skin and joint laxity, hypothermia, progressive neurological deteriroation seizures, LOW SERUM COPPER AND CAERULOPLASMIN (copper carrying enzyme)

45
Q

Phenotypic features of Smith-Lemli-Opitz syndrome?

A

Microcephaly, anteverted nares, palatal abnormalities, low set ears, 2-3 toe syndactyly, polydactyly, genital abnormalities in males. Raised 7-dehydrocholesterol

46
Q

What type/category of metabolic disorders is Leish Nyhan

A

Purine metabolism disorder. X–linked
Remember purines are Adenine and Guanine

47
Q

What does Lesch Nyhan present with?

A

High uric acid, neurobehavioural phenotype, cognitive impairment, movement disorder, self mutilation. (ie biting lips)

48
Q

What is the presentation for MMA?

A

Amino acid disorder
In newborn period with encephalopathy, metabolic acidosis, hyperammonaemia, neutropenia, thrombocytopenia

49
Q

Treatment for MMA?

A

Stop protein intake, give calories and toxin removal. Protein restriction in long term,

50
Q

What subclass of disorders is Sodium Valproate bad for?

A

Patients with urea cycle defects are therefore particularly vulnerable towards metabolic decompensation, liver failure, progressive encephalopathy, cerebral oedema, seizures and possibly death.

51
Q

How do you diagnose Homocystinuria?

A

PLasma amino acid progile

RACP Written (18 decks)

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