PEDIATRIC REVIEW TABLE - Genetic Flashcards (3)

Question 1

methylmalonic acidemia

Answer 1

D-methylmalonate mutase - 
MM-CoA + propionyl-CoA accumulate
Hyperglycinemia
Ketosis 
Hyperammonemia

Question 2

cystathionine B deficiency

Answer 2

AR-
Homocystinuria, high cystathionine + methionine
Marfanoid habitus
Rx w B6.

Question 3

biotinidase deficiency

Answer 3

Ketoacidosis
hyperammonemia
organic aciduria

Question 4

Glycine encephalopathy

Answer 4

Glycine decarboxylase -
cerebellar hypoplasia -
burst suppression/hypsarrhythmia

Question 5

Tuberous Sclerosis

Answer 5

AD - TSC1(tuberin) +TSC2 (hamartin)

Question 6

Menkes

Answer 6

XR - ATP7A - kinky hair + skin hyperelasticity

Question 7

Abetalipoproteinemia

Answer 7

AR - microsomal TG transfer (P) -
acanthocytes -
DC dysfunction-
acq vitamin E deficiency

Question 8

X linked lissencephaly

Answer 8

XR - DCX (doublecortin)

Question 9

Rett

Answer 9

XD - MeCP2

Question 10

NF1

Answer 10

AD - neurofibromin - chromosome 17

Lisch nodules/axillary freckling/spots/cut neurofibroma

Question 11

NF2

Answer 11

AD -
merlin - chromosome 22
b/l vestib schwannoma / meningioma

Question 12

Incontinentia pigmenti

Answer 12

XD - NEMO gene

Question 13

Glut1 transporter deficiency

Answer 13

Epileptic encephalopathy -

hypoglycorrhachia

Question 14

Lesch-Nyhan

Answer 14

XR - HGPRT -

self mutilation + dystonia, choreoathetosis

Question 15

Alexander

Answer 15

AD - GFAP -

U fibers always involved

Question 16

Canavan

Answer 16

AR
Aspartoacylase - central myelin ONLY
U fibers always involved

Question 17

Pelizaeus Merzbacher

Answer 17

XR - PLP1

U fibers spared

Question 18

Vanishing WM disease

Answer 18

AR - eIF2B-TRP

Question 19

Metachromatic leukodystrophy

Answer 19

arylsulfatase A
"optic atrophy, ataxia, dementia
 behavioral change, spastic ataxia
 psychosis, dementia"
Increased urine sulfatides

Question 20

Adrenoleukodystrophy

Answer 20

XR (neonate) AR (child/adult
Acyl Coa synthetase
"adrenal failure, testicular atrophy, cirrhosis
dementia, ataxia, seizures"
U fibers spared

Question 21

Aicardi

Answer 21

XD - infantile spasms + corpus callosum agenesis + chorioretinal malformations

Question 22

Zellweger

Answer 22

AR - PEX1-

MICROcephaly, leukodystrophy, hypotonia, coarse facial features

Question 23

Phenylketonuria

Answer 23

AR - phenylalanine hydroxylase

Question 24

propionic acidemia

Answer 24

AR-
propionyl CoA carboxylase-
ketoacidosis, high pCOA serum

Question 25

Ataxia w oculomotor apraxia type I

Answer 25

Aprataxin - onset childhood - neuropathy

Question 26

Ataxia w oculomotor apraxia type II

Answer 26

Senataxin - onset adolescence - myoclonus/chorea

Question 27

SCA-11

Answer 27

AD - tau-tubulin kinase (only non-trinucleotide rpt SCA) - pure cerebellar symptoms w mild pyramidal signs

Question 28

Wilson disease

Answer 28

AR - ATP7B - | copper is not adequately secreted into bile --> Cu increases in serum

Question 29

SCA-1

Answer 29

AD - ATXN1 - | hypermetric saccades + hyperreflexia

Question 30

SCA-2

Answer 30

AD - ATXN2 - | hypometric saccades + parkinsonism and dementia

Question 31

PKAN

Answer 31

AR - pantothenate kinase 2 - dystonia - choreathetosis - EYE OF THE TIGER sign

Question 32

Primary generalized dystonia

Answer 32

AD - torsin A - aka DYT1 dystonia - kinesogenic at 1st then generalized

Question 33

dopa responsive dystonia/Segawa syndrome

Answer 33

AD - GTP cyclohydrolase1 - THB synthesis, req'd by tyr hydroxylase to make DA aka DYT5

Question 34

ADNFLE

Answer 34

AD - nicotinic AcH (R)

Question 35

Ataxia telangiectasia

Answer 35

AR - ATM1 (DNA repair)

Question 36

Fragile X linked ataxia

Answer 36

XR - CGG repeat in FMR1 gene (>200 repeats) parkinson+ataxia in grandparent of Fragile X kid

Question 37

episodic ataxia type 1

Answer 37

KCN1A - ep. ataxia +facial twitching - Rx = CMZ

Question 38

episodic ataxia type 2

Answer 38

CACN1A4 - ep. ataxia + nystagmus/dysarthria - Rx = diamox

Question 39

Cerebrotendinous xathomatosis

Answer 39

AR - 27-sterol hydroxylase - cholesterol/stanol deposited in tendons + CNS - neuropsych sx/ataxia/parkinsonism

Question 40

Galactosemia

Answer 40

3 mutations: epimerase - galactokinase - uridyltransferase

Question 41

Gaucher

Answer 41

``` AR - glucocerebrosidase - type1: no CNS involvement; type2: 2y, HSM, ataxia, EOM inv. - wrinkled tissue paper cells ```

Question 42

Fabry

Answer 42

XR - a-galactosidase - arrhythmia + ESRD + sm fiber neuropathy + ANGIOKERATOMA + ischemic stroke

Question 43

Niemann Pick A

Answer 43

AR - sphingomyelinase - | CHERRY RED SPOT + HSM

Question 44

Niemann Pick C

Answer 44

AR - NPC1 - positive filipin test - HSM, ataxia, MR

Question 45

GM1 gangliosidosis

Answer 45

AR - beta galactosidase - | coarse facial features + HSM

Question 46

Tay Sachs disease

Answer 46

AR - hexosaminidase A - | CHERRY RED SPOT

Question 47

Sandhoff

Answer 47

AR - hexosaminidase A+B - | CHERRY RED SPOT + HSM

Question 48

Krabbe

Answer 48

AR - galactocerebrosidase - optic atrophy, spasticity, b regression - peripheral neuropathy (PNS myelin) U FIBERS spared

Question 49

Glutaric aciduria type I

Answer 49

Macrocephaly, bilateral SDHs | Leukodystrophy

Question 50

LRRK2

Answer 50

Leucine rich repeat kinase 2. Encoded by PARK8 gene. The Gly2019Ser mutation in PARK8 (LRRK2) = AD. Most common cause of AD, adult-onset PD

Question 51

Parkin

Answer 51

Encoded by PARK2 gene. Mutations in PARK2 =MCC of juvenile onset AR PD. Do not form Lewy bodies.

Question 52

Refsum disease

Answer 52

AR phytanoyl-CoA-hydroxylase Ataxia, neuropathy, scaly skin High phytanic acid level

Question 53

Megalencephalic leukodystrophy w subcortical cyst

Answer 53

aka MLC. AR. MLC1 gene. Leukopathy, large head, multiple TEMPORAL cysts.