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General Genetics > MPS and Peroxisomal Disorders > Flashcards

MPS and Peroxisomal Disorders Flashcards

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1
Q

MOI of MPS II/ Hunter syndrome

A

X-linked

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2
Q

MPS that can present at birth

A

MPS VII/ Sly syndrome

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3
Q

Dysostosis Multiplex

A

Growth restriction/ short stature

Joint Contractures

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4
Q

MPS with normal intellect

A

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

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5
Q

Hurler syndrome gene

A

IDUA

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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

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7
Q

Scheie (MPS IS) gene

A

IDUA

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8
Q

Clinical features of Scheie

A

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

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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

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10
Q

Features often noted prior to 1y in Hurler syndrome

A

umbilical/inguinal hernia
frequent upper respiratory infections

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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

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12
Q

Treatment options for Hurler

A

can increase survival and reduce some complications

Hematopoietic stem cell transplantation

Recombinant IV enzyme replacement therapy

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13
Q

Treatment for Scheie

A

recombinant IV enzyme replacement therapy

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14
Q

outcome w/o treatment of Scheie

A

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

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15
Q

MPS I DX

A

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

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16
Q

Buzz words for Hunter syndrome

A

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

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17
Q

gene for Hunter syndrome

A

IDS

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18
Q

Hunter syndrome severe symptoms

A

dysostosis multiplex
organomegaly
no corneal clouding
ID
death before 15

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19
Q

Hunter syndrome mild symptoms

A

normal intelligence
short stature
survival to adulthood+
no corneal clouding

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20
Q

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

A

umbilical/inguinal hernia
frequent upper respiratory infections

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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

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22
Q

Treatments for Hunter syndrome

A

Hematopoietic stem cell transplantation

recombinant IV enzyme replacement therapy

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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

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24
Q

Treatment for Mild MPS II (Hunter mild)

A

recombinant IV enzyme replacement therapy

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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)

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