Genetic Disorders

Question 1

Metachromatic Leukodystrophy inheritance and deficiency

Answer 1

Autosomal recessive metabolic disorder
deficiency in arysulfatase A

results in demyelination

Question 2

Tay sachs disease inheritance, deficiency, and main symptoms

Answer 2

autosomal recessive
deficiency in hexosaminidase A
intellectual disability, paralysis, dementia, blindness, cherry red spot, heightened startle response

Question 3

Krabbe’s disease inheritance, deficiency, and symptoms

Answer 3

autosomal recessive
galactocerebrosidase B galactosidase
infants w/ rapid loss in motor and intellectual development, hypertonicity, optic atrophty, seizures

Question 4

Huntington’s disease is on what chromosome and what is the genetics

Answer 4

short arm of chromosome 4 and involves expansion of CAG repeat

Question 5

Wilson’s disease involves low ____ in blood

and causes _____ to accumulate in body

Answer 5

ceruloplasmin

copper

Question 6

Tuberous Sclerosis inheritance and symptoms

Answer 6

autosomal dominant

seizures, Intellectual disability, skin findings - ash leaf spot, adenoma sebaceum, shagreen spots

Question 7

which disorder has a port wine nevus on the face

Answer 7

STURGE WEBER

Question 8

Lesch Nyhan syndrome inheritance, enzyme deficit, and symptoms

Answer 8

xlinked recessive

deficit in hypoxanthine-guanine phosphoribosyltransferase

cognitive impairment, self mutilatory behavior, hypotonia, hyperreflexia, dysarthria, developmental delay, choreoathetotic movements,

Question 9

Apo E4 resides on which chromosome?

Answer 9

19

Question 10

Name the disorders that are associated with expansion of genetic trinucleotide repeat sequences

Answer 10

fragile x, myotonic dystrophic, huntingtons, x- linked spinobulbar mulscular atrophy, and friedrich’s ataxia

Question 11

Phenyketonuria, inheritance and clinical features

Answer 11

Autosomal recessive

microcepahly, mousy, infantile spasms, light hair and skin pigementation