Progressive Metabolic Diseases

Question 1

Alpha-galactosidase

Answer 1

Fabry Disease

Question 2

Fabry Disease inheritance

Answer 2

X-linked

Question 3

Involvement:
Heart
Kidney
Painful demyelinating peripheral neuropathy
TIA's

Answer 3

Fabry Disease

Question 4

Involvement:
Proximal/respiratory weakness
Elevated CK
Hypotonia
Macroglossia

Answer 4

Pompe Disease

Question 5

Pompe disease inheritance

Answer 5

Autosomal recessive

Question 6

Alpha glucosidase

Answer 6

Pompe disease

Question 7

Involvement: 
Mental regression
Ataxia
Hypertonia
Flaccid Paraplegia
Pyramidal signs
Optic atrophy

Answer 7

Metachromatic leukodystrophy

Question 8

Arylsulfatase

Answer 8

metachromatic leukodystrophy

Question 9

Involvement: 
peripheral neuropathy
retinitis pigments
cerebellar ataxia
ichthyosis

Answer 9

Refsum disease

Question 10

Phytanic acid

Answer 10

Refsum disease

Question 11

Refsum disease inheritance

Answer 11

Autosomal recessive

Question 12

Refsum disease gene

Answer 12

PEX7

Question 13

Pompe disease gene

Answer 13

acid-alpha glucosidase (GAA)

Question 14

Metachromatic leukodystrophy gene

Answer 14

ARSA/PSAP

Question 15

Metachromatic leukodystrophy inheritance

Answer 15

Autosomal recessive

Question 16

Involvement: 
Progressive weakness
Hearing/vision loss
Stiffness
Regression
Seizures

Answer 16

Krabbe disease

Question 17

Krabbe disease inheritance

Answer 17

Autosomal recessive

Question 18

Krabbe disease gene

Answer 18

GALC

Question 19

Galactosylceramidase deficiency/loss of function

Answer 19

Krabbe Disease

Question 20

Involvement: 
Optic atrophy
Deafness
Macrocephaly
Developmental Delay
Hypotonia/poor head control
Spasticity

Answer 20

Canavan disease

Question 21

Canavan gene

Answer 21

ASPA (enzyme NAA)

Question 22

Elevated urine N-acetylaspartic acid

Answer 22

Canavan disease

Question 23

MRI findings Krabbe

Answer 23

T2: High signal periventricular white, centrum semiovale, deep gray. U-fiber sparing
No contrast enhancement

Question 24

Canavan disease MRI

Answer 24

T1: Hypointense and t2: hyper intense white matter disease sparing CC, caudate, putamen and internal capsule but gets GP and thalami. U-fibers affected!

Question 25

``` Involvement: Seizures Spasticity Regression Macrocephaly U-fibers effected early ```

Answer 25

Alexander disease

Question 26

Alexander disease MRI

Answer 26

T2 hyper intensity in bifrontal white matter Caudate>Globus Pallidus >Thalamus >Brainstem Contrast enhancement present

Question 27

GFAP involvement

Answer 27

Alexander disease

Question 28

``` Pendular eye movements Hypotonia Pyramidal disease Ataxia Seizures ```

Answer 28

Pelizaeus-Merzbacher

Question 29

Pelizaeus-Merzbacher gene

Answer 29

PLP1 (xp22)

Question 30

Pelizaeus-Merzbacher inheritance

Answer 30

X-linked recessive

Question 31

Pelizaeus-Merzbacher MRI findings

Answer 31

Hypomyelination Patchy/tigroid involvement Atrophy

Question 32

``` Behavior changes Poor Memory Poor school performance Visual loss Seizures Dysarthria Gait disturbance Abnormal pigmentation ```

Answer 32

Adrenoleukodystrophy

Question 33

Adrenoleukodystrophy inheritance

Answer 33

X-linked

Question 34

Adrenoleukodystrophy enzyme

Answer 34

VLCFAD

Question 35

``` Involvement: Behavior changes Regression Seizures Behavior difficulties Frequent respiratory infections Cherry Red Spot ```

Answer 35

Tay-Sachs

Question 36

Tay-Sachs Enzyme

Answer 36

Hexosaminidase

Question 37

Tay-Sachs gene

Answer 37

HEXA

Question 38

Tay-Sachs inheritance

Answer 38

Autosomal recessive

Question 39

``` Involvement: Skeletal disorders Hepatosplenomegaly Thrombocytopenia Seizures Developmental regression ```

Answer 39

Gaucher's disease

Question 40

Gaucher's disease inheritance

Answer 40

Autosomal recessive

Question 41

Gaucher's disease gene

Answer 41

GBA

Question 42

Sphinigolipid accumulation

Answer 42

Gaucher's

Question 43

Presentation: Late life distal axonopathy Adrenal insufficiency

Answer 43

Adrenomyeloneuropathy

Question 44

Sphingomyelinase deficiency

Answer 44

Neimann-Pick

Question 45

``` Presentation: Neurodegeneration Hepatosplenomegaly Foam laden macrophages Cherry red spot ```

Answer 45

Neimann-Pick

Question 46

``` Presentation: Exaggerated startle 3-6 months Motor regression Spasticity Blindness/optic atrophy Seizures Cherry red spot Hepatosplenomegaly ```

Answer 46

GM2 Gangliosidosis (Sandhoff syndrome) Like Tay-Sachs but has hepatosplenomegaly

Question 47

Hexosaminidase A & B

Answer 47

Sandhoff syndrome /GM2 gangliosidosis