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CMBM E2 CB > Kendall > Flashcards

Kendall Flashcards

1
Q

Patients with Marfan should also be screened for ______

A

homocystinuria

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2
Q

What is the most common cause of inherited learning disability?

A

Fragile X

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3
Q

Mutation behind Rett’s syndrome

A

Loss of function mutations of MECP2 gene on X chromosome

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4
Q

Calling card of Rett’s

A

Girls with normal development until 18 months, at which point they develop microcephaly and skill loss

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5
Q

MECP2 is responsible for _____. Mutations would cause _______.

A

global gene silencing / inappropriate gene activation

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6
Q

Metabolic disorders are almost always ______ _______ inheritance, resulting in a _____ recurrence risk for a couple.

A

Autosomal recessive / 25%

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7
Q

What increases the risk of inheriting inborn errors of metabolism?

A

Consanguinity

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8
Q

Abnormal levels of PHE prevent the normal transport of other amino acids, specifically ______, across the ______.

A

Tyrosine / blood-brain barrier

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9
Q

What is the standard treatment for PKU?

A

Dietary therapy for life

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10
Q

What is significantly affected by delays in the initiation of low-PHE diet for PKU patients?

A

Their IQ

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11
Q

New therapy for PKU

A

Kuvan

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12
Q

Galactosemia babies should also be screened for ______

A

e. coli infection

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13
Q

Organs most affected by mito disease

A 
CNS
Muscles
Cardiac
GI system including liver
Kidneys
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14
Q

How do you treat Wilson’s disease?

A

Penicillamine (binds copper and leads to excretion of copper in urine)

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15
Q

Mitochondrial genes are responsible for creating proteins that ______

A

control ETC structure, function, and assembly

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16
Q

Mitochondrial disorders are most often inherited from mom/dad/both

A

Both

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17
Q

Before starting mito evaluation, should also screen for….

A

Chrosomome abnormalities
Other inborn errors of metabolism
Any other disorders that could explain the clinical presentation

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18
Q

Functional testing

A

examines the OXPHOS energy pathway

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19
Q

Gene testing

A

evaluation of mtDNA and nuclear mitochondrial genes

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20
Q

Biomarker studies

A

lactate and pyruvate levels, CSF lactate, CPK, urine organic acids, carnitine levels

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21
Q

What percentage of mito disease patients are diagnosed through gene testing?

A

50-60%

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22
Q

Radiographic studies

A

ID of mito related imaging abnormalities

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23
Q

What sort of findings are strongly suggestive of mito energy disorders?

A

Typical brain changes suggestive of Leigh disease or abnormalities in white matter

Persistent, significant elevations in LACTATE (especially in brain) and other biochemical features

Problems in many body systems suggestive of mito disease

Strong family history of mito disease

24
Q

Calling card of Leigh disease (imaging)

A

On MRI:

Bilateral, symmetrical basal ganglia lesions

25
Q

What are ragged red fibers?

A

Common histological finding in mito disease: red fibers are mitochondrial proliferation

26
Q

What percentage of patients are diagnosed via finding ragged red fibers?

A

2.5% of patients

27
Q

Ragged red fibers are usually found in _____ patients

A

Adult

28
Q

Approx. how many genes are involved in mito energy production?

A

1500

29
Q

How many genes does mtDNA sequencing screen?

A

37 maternally inherited mitochondrial genes

30
Q

MELAS cause

A

tRNA 3243 mutation

Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke Like Episodes

31
Q

MERRF cause

A

tRNA 8344 mutation

Myoclonic Epilepsy and Ragged Red Fibers

32
Q

SURF1 mutation

A

complex IV assembly gene mutations

associated with Leigh disease

33
Q

Complex I nuclear gene mutations associated with what diseases?

A

Leukodystrophy and myoclonic epilepsy

34
Q

Metabolic abnormalities supportive of mitochondrial disease

A

Increased blood and/or CSF lactate and pyruvate
Decreased plasma carnitine
Increased blood alanine
Generalized aminoaciduria

35
Q

Inheritance of mitochondrial energy disorders

A

Autosomal recessive (most common)
Autosomal dominant
Sporadic
X-linked

36
Q

1 in ____ people diagnosed with autism

A

66

37
Q

Autism 4 times more likely to affect boys/girls

A

Boys

38
Q

How often is an underlying diagnosis established in autism cases?

A

2-36%

39
Q

____ out of 100 autism patients also had underlying mito disease

A

4-7

40
Q

One study found that ____% of autism patients had enzyme function affecting complex I

A

60

41
Q

Symptoms of HMSN

A

Slowly progressing muscle weakness and wasting
Tremors
High arches and curled toes

42
Q

HMSN caused by

A

Overproduction of PMP-22, which prevents Schwann cell proliferation

43
Q

NF caused by

A

Mutation of NF1 gene on the long arm of chromosome 17

44
Q

Symptoms of NF

A

Small pigmented skin lesions (cafe au lait spots)
Small soft fleshy benign tumors
Large head
Lisch nodules

45
Q

1/3 of NF cases result in ______

A

Non-verbal learning disorder

46
Q

Most NF patients are normal and healthy, but some develop….

A

Epilepsy
CNS tumor
Scoliosis

47
Q

Age of onset for NF

A

<5 years

48
Q

Test used to ID Lisch nodules

A

Slit-lamp

49
Q

Marfan syndrome cause

A

Mutation of type 1 fibrillin gene (FBN1)

50
Q

Other conditions associated with HMSN

A

Charcot-Marie-Tooth

Peripheral Muscular Atrophy

51
Q

Symptoms of Duchenne’s

A

Awkward, clumsy walking
Muscle weakness (feet and moves upward)
1/3 have learning disabilities

52
Q

Duchenne’s patients typically die because of

A

Heart failure

Pneumonia

53
Q

Duchenne’s is caused by

A

Deletion of dystrophin gene

54
Q

What biomarker level is markedly elevated in Duchenne’s?

A

CPK (muscle enzyme)

55
Q

Losartan has been shown to halt progression of which conditions?

A

Marfan

Duchenne’s

56
Q

Most concerning neurological signs

A

Ataxia
Altered state of consciousness
Developmental regression

57
Q

Neurological syndromes in infants/children can often signal

A 
Undiagnosed PKU (may have been missed because of TPN during newborn screening)
Homocystinuria

CMBM E2 CB (6 decks)

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