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Metabolic Medicine Flashcards

(52 cards)

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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?

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A

Galactossemia

22
Q

What type of disorder is Pompe’s disease?

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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?

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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?

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A

Enzyme replacement- has improved survivval

25
What does SGLT-1 do?
Absorption of glucose and galactose so deficiency = absorption disorder
26
What type of disorder is ornithine transcarbamylas deficiency?
Urea cycle disorder
27
What is the presentation and inheritance of ornithine transcarbamylase def?
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
What type of disorder is MCAD?
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
What is the presentation for MCAD?
Hypoketotic hypoglycemia. Vomiting, drowsiness, encephalopathy, hepatomegaly, liver dysfn and seizures. Can also present with sudden death.
30
What is the treatment for MCAD?
Intravenous dextrose. Avoid prolonged fasting and supplement during intercurrent illness
31
What are examples of lysosomal storage disorders?
MPS, Niemann Pick, Krabbe and Frabrys disease
32
Which two lysosomal storage disorders are X linked?
MPS 2 and Frabyr's disease
33
What is the classic phenotype for MPS?
Macrocephaly, progressively coarse facial features, macroglossia, corneal clouding, hepatosplenomegaly, inguinal and umbilical hernias
33
What is the classic phenotype for MPS?
Macrocephaly, progressively coarse facial features, macroglossia, corneal clouding, hepatosplenomegaly, inguinal and umbilical hernias
34
What is the diagnostic test for MPS?
Look at lysosomal storage enzymes, mutation testing and urine metabolic screen which will show increased GAGs (urine glycosaminoglycans)
35
Treatment for MPS?
Multi-disciplinary. HSCT and enzyme replacement. NO TREATMENT FOR MPS 3 (Sanfillipo)
36
What are the three 'common' peroxismal disorders?
Zelwegger, infantile Refsum disease and X-linked adrenoleukodystorphy.
37
What is the clinical presentation for Zelwegger?
Dysmorphic features: flat nasal bridge, large tongue, widely spaced eyes. Structural brain abnormalities: hypotonia, seizures, deafness Bony abnormalities Hepatomegaly Adrenal insufficiency
38
What are some clinical features of mitochondrial disorders?
neonatal lactic acidaemia, unexplained multi-organ failure, cardiomyopathy, conduction defects, encephalopathy, sideroblastic anaemia,SNHL. Organs dependent on aerobic metabolism ESPECIALLY affected
39
Where is the mutation for mitochondrial disorders?
Can be in mitochondrial DNA or nuclear DNA.
40
What is the diagnostic testing for mitochondrial disorders?
Resting blood lactate and pyruvate. Urine organics, CSF lactate and pyruvate. Then muscle and liver biopsy and then DNA testing
41
What is Leigh disease?
Mitochondrial disorder Primary affects infants and young children, with variable clinical features. Central hypotonia. Developmental regression or arrest and brainstem/basal ganglia involvement
42
What is MELAS?
Mitochondrial encephalpathy, lactic acidosis and stroke-like episodes. Recurrent stroke like episodes with progressive neuromuscular abnormalities. Some individuals can have migraine headaches
43
What is the presentation of maternal PKU in babies?
Remember Phe is teratogenic. Presents kind of like FASD Microcephaly, thin upper lip, long and smooth philtrum, profound intellectual impairment, congenital cardiac defect
44
What is the phenotypic features of Menke's diseases?
Wool hair, Hypopigmentation, pudgy cheeks, skin and joint laxity, hypothermia, progressive neurological deteriroation seizures, LOW SERUM COPPER AND CAERULOPLASMIN (copper carrying enzyme)
45
Phenotypic features of Smith-Lemli-Opitz syndrome?
Microcephaly, anteverted nares, palatal abnormalities, low set ears, 2-3 toe syndactyly, polydactyly, genital abnormalities in males. Raised 7-dehydrocholesterol
46
What type/category of metabolic disorders is Leish Nyhan
Purine metabolism disorder. X--linked Remember purines are Adenine and Guanine
47
What does Lesch Nyhan present with?
High uric acid, neurobehavioural phenotype, cognitive impairment, movement disorder, self mutilation. (ie biting lips)
48
What is the presentation for MMA?
Amino acid disorder In newborn period with encephalopathy, metabolic acidosis, hyperammonaemia, neutropenia, thrombocytopenia
49
Treatment for MMA?
Stop protein intake, give calories and toxin removal. Protein restriction in long term,
50
What subclass of disorders is Sodium Valproate bad for?
Patients with urea cycle defects are therefore particularly vulnerable towards metabolic decompensation, liver failure, progressive encephalopathy, cerebral oedema, seizures and possibly death.
51
How do you diagnose Homocystinuria?
PLasma amino acid progile

RACP Written (18 decks)

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