Brainscape's Knowledge GenomeTM

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


See full index

General Genetics > MPS and Peroxisomal Disorders > Flashcards

MPS and Peroxisomal Disorders Flashcards

1
Q

MOI of MPS II/ Hunter syndrome

A

X-linked

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

MPS that can present at birth

A

MPS VII/ Sly syndrome

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

Dysostosis Multiplex

A

Growth restriction/ short stature

Joint Contractures

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

MPS with normal intellect

A

Scheie (MPS IS), Hunter (MPS II), Morquio (MPS IV), Maroteaux-Larny (MPS VI)

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

Hurler syndrome gene

A

IDUA

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

Hurler syndrome clinical manifestations

A

Corneal clouding; dyostosis multiplex, organomegaly, heart disease, death in childhood

Short stature, thick tongue, persistent nasal discharge, stiff joints, claw hand, hydrocephalus

hearing loss and verbal language detortiation

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

Scheie (MPS IS) gene

A

IDUA

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

Clinical features of Scheie

A

Corneal clouding, stiff joints, normal intelligence, and life span

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

Clinical features of Hurler-Scheie

A

intermediated between IH and IS

case example:
short statue, stiff joints, micrognathia, corneal clouding, umbilical hernia, hepatosplenomegaly, systolic murmur, normal intelligence

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Features often noted prior to 1y in Hurler syndrome

A

umbilical/inguinal hernia
frequent upper respiratory infections

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

Progressive features often noted from one year onward in severe MP1 (Hurler)

A

coarse facial features & corneal clouding
dysostosis mulitiplex and organ involvement
DD; neurodegeneration

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

Treatment options for Hurler

A

can increase survival and reduce some complications

Hematopoietic stem cell transplantation

Recombinant IV enzyme replacement therapy

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

Treatment for Scheie

A

recombinant IV enzyme replacement therapy

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

outcome w/o treatment of Scheie

A

milder but slowly progressive dysostosis multiplex
milder + progressive facial coarsening
cloudy cornea
hernia
heart valve

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

MPS I DX

A

Elevated total GAG levels
Elevated Heparan and Dermatan Sulfate
Alpha-L Idurondiase Enzyme Activity
IDUA del/dup

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

Buzz words for Hunter syndrome

A

x-linked
no corneal clouding
skin colored ivory with papule and nodules on shoulder blades

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

gene for Hunter syndrome

A

IDS

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

Hunter syndrome severe symptoms

A

dysostosis multiplex
organomegaly
no corneal clouding
ID
death before 15

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

Hunter syndrome mild symptoms

A

normal intelligence
short stature
survival to adulthood+
no corneal clouding

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

features often noted prior to 1yo in Hunter syndrome (MPS II)

A

umbilical/inguinal hernia
frequent upper respiratory infections

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Progressive features often noted 1yo onward in Hunter syndrome

A

coarse facial features w/o corneal clouding
dysostosis multiplex and organ involvement
developmental delay, stagnation and neurodegeneration by 6-8y
death by 10-20y

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Treatments for Hunter syndrome

A

Hematopoietic stem cell transplantation

recombinant IV enzyme replacement therapy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Features noted by 10yo in mild Hunter syndrome

A

milder/ slowly progressive dysostosis multiplex
milder/ slowly progressive facial coarsening
organomegaly, hernia, heart valve disease

normal cognition
may have normal lifespan

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Treatment for Mild MPS II (Hunter mild)

A

recombinant IV enzyme replacement therapy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

MPS II DX

A

Elevated GAG levels
elevated heparan and dermatan sulfates
Iduronate Sulfatase Enzyme Activity
IDS sequencing, del/dup, and southern blot

26
Q

MPS IIIA (Sanfilippo Syndrome) clinical characteristics

A

profound mental deterioration
hyperactivity
relatively mild somatic manifestations
milder forms exist

27
Q

Sanfilippo genes

A

GNS, HGSNAT, NAGLU, SGSH

28
Q

Typical natural history of Sanfilippo

A

mild to no orgnaomegaly
little to no corneal clouding
no coarsening of facial features
no dysostosis multiplex
death often by 20 due to cardiopulmonary effects

29
Q

DX Sanfillippo

A

Elevated GAGs
Need enzyme/ molecular testing to determine subtype

30
Q

Treatments for Sanfillippo

A

none

31
Q

Clinical features for MPS IVA (Morquio A)

A

Distinctive skeletal abnormalities, corneal clouding, odontoid hypoplasia, milder forms exist, normal intelligence

32
Q

MPS IV (Morquio) Skeletal findings

A

short stature
Ulnar deviation of the wrists
shortened forearms
pectus carinatum
genu valgum (knock knees)
LIGAMENTOUS LAXITY (unusal for MPS)

33
Q

Features noted by 1y in Morquio syndrome

A

Kyphoscoliosis, pectus carniatum, knock-knees (genu valgum)

34
Q

Non-skeletal progressive features of Morquio

A

Corneal clouding, valvular heart disease, mild hepatomegaly, hearing impairment, sleep apnea, severe respiratory insufficiency

little to no cognitive impairment, minimal facial coarsening

35
Q

Treatments for MPS IV (Morquio)

A

recombinant IV enzyme replacement therapy
orthopedic and other symptomatic surgical procedures

36
Q

MPS IV (Morquio) dx

A

GAG levels
TYPE A Keratin and Chondroitin 6-Sulfate
TYPE B Keratin
N-acetylgalactosamine 6 Sulfatase Enzyme Activity
GALNS molecular analysis (sequencing, del/dup)

37
Q

MPS IV (Morquio) gene

A

GALNS

38
Q

MPS VI- Maroteaux - Lamy syndrome clinical features

A

dysostosis multiplex, corneal clouding, normal intelligence, survival to teens in severe form

39
Q

Typical natural history of MPS VI- Maroteaux - Lamy syndrome

A

decelerated growth after 1st year
progressive facial coarsening, corneal clouding, cardiorespiratory disease, organomegaly, dysostosis multiplex, normal intelligence

40
Q

DX of MPS VI- Maroteaux - Lamy syndrome

A

elevated urine GAGs
enzyme. molecular testing for ARSB gene

41
Q

gene for MPS VI- Maroteaux - Lamy syndrome

A

ARSB

42
Q

Treatment for MPS VI- Maroteaux - Lamy syndrome

A

ERT: Naglazyme

43
Q

MPS VII (Sly syndrome) Clinical features

A

dysostosis multiplex, hepatosplenomegaly, wide spectrum of severity
coarse features
neurodegeneration
corneal clouding
death by 20s

includes fetal and neonatal form (often fetal demise)

44
Q

Important reaction peroxisomes catalyze

A

very long chain fatty acid beta oxidation

45
Q

X-Linked Adrenoleukodystrophy (X-ALD) phenotype

A

childhood leukodystrophy, adrenomyelonueropathy, and Addison’s disease

46
Q

gene in X-ALD

A

ABCD1

47
Q

Initial symptoms in X-ALD (childhood cerebral leukodystrophy)

A

Behavior and attention changes
school difficulty, incoordination, handwriting worsens
visual loss, comprehension difficulty

death often by 2yo

48
Q

Brain MRI findings in X-ALD (childhood cerebral leukodystrophy)

A

white matter abnormalities from demyelination

49
Q

Features of X-ALD (Adrenomyelonueropathy)

A

males will have normal health for 20-40 years
then develop leg weakness, bowel/bladder and sexual dysfunction

50
Q

Features of X-ALD Addison’s disease

A

primary adrenocortical insufficiency
high ACTH = bronze skin, low corticosteroids which leads to weakness, vomitting, coma

51
Q

DX X-ALD

A

Plasma VLCFA levels
ABCD1 Gene analysis
Brain MRI
Adrenal function tests

52
Q

Treatments for X-ALD

A

Corticosteroid replacement therapy
Hematopoietic stem cell transplantation or bone marrow transplant
Lorenzo’s Oil

53
Q

Zellewger syndrome also referred to as

A

cerebrohepatorenal

54
Q

3 major phenotypes for cerebrohepatorenal

A

Zellweger syndrome
Neonatal adrenoluekodystrophy
Infantile refuse disease

55
Q

cerebrohepatorenal genes

A

12 PEX genes

56
Q

Features of Zellweger syndrome (most severe)

A

neonatal hypotonia, seizure, FTT, liver cysts and dysfunction, chondrodysplasia punctuata, DD

death usually by 1y

57
Q

Dysmorphic features associated with ZSS

A

flat mid face, high forehead, wide anterior fontanelle, upslanting palpebral fissures, hypotelorism, broad nasal bridge, anteverted nares, micrognathia

58
Q

Differentials for ZSS

A

Down syndrome, Prader Willi, Usher syndrome

59
Q

DX ZSS

A

biochemical assays showing multiple peroxisomal abnormalities
PEX gene analysis

60
Q

Treating ZSS

A

Suportive care only

General Genetics (13 decks)

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