Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

FOP/TAS > Metabolic Medicine > Flashcards

Metabolic Medicine Flashcards

1
Q

Anion gap calculation and normal value

A

[Na + K] - [Cl + HCO3]
Normal 10-16

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Type I GSD

A

deficiency of glucose-6-phosphate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

presentation of Type 1 GSD

A

hepatomegaly (2y to glycogen storage)

cherubic facies

hypoglycaemic symps in the neonatal period

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Rx Type 1 GSD

A

regular feeds through the day and continuous feed overnight

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Type V GSD

A

McArdle’s disease

Muscle cramps/pain/fatigue during brief intense exercise

Dark coloured urine (myoglobin)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

presentation of MCADD

A

can present with an intercurrent illness or following a prolonged period of fasting

hypoketotic hypoglycaemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Rx MCADD

A

avoidance of prolonged fasting

additional supplementation of glucose during intercurrent illness §

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

what are apolipoproteins

A

proteins that bind with lipids (trigs & cholesterol) to form lipoproteins&raquo_space; enables transport of lipids around the body

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Apolipoprotein CII deficiency

A

impaired clearance of chylomicrons (lipoproteins that mainly transport trigs)

  • xanthomas
  • incr risk of CVS disease and pancreatitis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

inheritance of apolipoprotein B deficiency

A

AD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

consequence of apoliprotein B deficiency

A

raised LDL cholesterol in the blood

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

are trigs normal or raised in apolipoprotein B deficiency

A

normal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

inheritance of galactosaemia

A

AR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

what is deficient in galactosaemia

A

the enzyme galactose-1-uridyl transferase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

consequence of galactosaemia

A

cannot convert galactose to glucsoe

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

presentation galactosaemia

A

vomiting
diarrhoea
faltering growth
jaundice
cataracts **
e.coli UTI **

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Rx galactosaemia

A

lactose and galactose free diet > soya based feed (Casein-hydrolysate formula)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

inheritance of GLUT-1 deficiency

A

AD - mutation in SLC2A1 gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

what is the role of GLUT-1

A

the primary transport protein that allows glucose to cross the BBB

20
Q

presentation GLUT-1 deficiency

A

aberrant gaze saccades
refractroy seizures
spasticity
ataxia
dystonia

triggers > exercise/stress/weather changes

21
Q

Ix GLUT-1 deficiency

A

LP - low CSF plasma glucose & low lactate

Genetic testing

22
Q

Rx GLUT1 deficiency

A

ketogenic diet - high fat, avoid carbs

23
Q

What is important perioperatively (fluid wise) for patietns with GLUT-1 deficiency

A

avoid dextrose in fluids as this will provoke crisis

24
Q

what is kearn’s sayre syndrome

A

mitochondrial disorder

-progressive ophthalmoplegia
- ptosis
- cardiac conduction abnormalities

25
Q

what is niemann-pick type c disorder

A

a lysosomal storage disorder

26
Q

mutation in NPC disorder

A

NP1 mutation (95%) on long arm of chromosome 18

or

NP2 mutation on long arm of chromosome 14

27
Q

consequence of NPC disorder

A

inability to transport cholesterol and fatty acids, leading to accumulation in tissue incl brain

28
Q

presentation of NPC disorder

A

huge variety, can present perinatally if severe or not be discovered until adulthood

perinatal
- ascites / cholestasis / hepatomegaly

infancy
- hepatosplenomegaly / delayed psychomotor development / vertical supranuclear gaze palsy ** / sensorineural hearing loss

29
Q

eye movement disorder in NPC

A

vertical supranuclear gaze palsy

30
Q

what are mucopolysaccaridoses (MPS)

A

a group of lysosomal enzyme deficiency disorders, usually involved in the breakdown of glycosaminoglycans

31
Q

pathophysiology of MPS

A

mutation in the IDUA gene&raquo_space; failure to breakdown glycosaminoglycans&raquo_space; accumulation and multi organ disease

32
Q

characteristic features of MPS

A

coarse facies
macroglossia
micrognathia
cardiomyopathy

33
Q

presentation of MPS type 1 (hurler syndrome)

A

corneal clouding

34
Q

inheritance of MPS

A

Type 1, 3, 4 and 5 AR

Type 2 X-linked

35
Q

presentation of MPS type 2 (hunter syndrome)

A

similar to hurler’s syndrome but no corneal clouding

36
Q

presentation of MPS type 3 (sanfillipo syndrome)

A

major development and intellectual delay

37
Q

Ix for MPS

A

urine glycosaminoglycans - will be raised

38
Q

what causes non-ketotic hyperglycinaemia

A

a defect in the glycine cleavage system&raquo_space; glycine encephalopathy

39
Q

presentation of non-ketotic hyperglycinaemia

A

seizures in utero ‘rhythmic fetal movements’

soon after birth - profound apnoeas/lethargy/myoclonic seizures/refractory status

40
Q

inheritance of PKU

A

AR

41
Q

deficiency in PKU

A

phenylalanine hydroxylase (converts phenylalanine to tyrosine)

42
Q

presentation PKU

A

2y to raised phenylalanine levels
- microcephaly
- seizures
- LD
- eczema
- fair skin & eyes
- dysmorphic features

43
Q

Rx PKU

A

low protein diet (Reduce intake of phenylalanine)

tyrosine supplementation

44
Q

enzyme deficient in maple syrup urine disease (MSUD)

A

alpha-keto-acid dehydrogenase

45
Q

inheritance of homocystinuria

A

AR

46
Q

problem in homocystinuria

A

disorder of conversion of methionine to cysteine&raquo_space; consequent accumulation of homocysteine

FOP/TAS (25 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions