Medt Inborn Errors Of Metabolism

Front 1

Learning objective 1

Back 1

Discuss the chemical consequences of mutations which result in inborn errors of metabolism

Front 2

Discuss the chemical consequences of mutations which result in inborn errors of metabolism

General outcome

Back 2

A critical step in a metabolic step is affected

Front 3

Discuss the chemical consequences of mutations which result in inborn errors of metabolism

Effects

Back 3

1. Accumulation

2. End product

3. Alternate pathways

Hint 3

1. Accumulation of normally metabolized chemical

2. No or decreased end product

3. Alternate pathways is activated, sometimes it can produce toxic products

Front 4

Learning objective 2

Back 4

List examples of diseases in which there is a genetic defect resulting in an error in amino acid metabolism, carbohydrate metabolism, lipid metabolism and nucleic acid metabolism

cont.

Hint 4

Describe the mode of inheritance, genetic defect major symptoms, treatment and detection of each disorder

Front 5

4 types of pathway that can have metabolic defects

Back 5

Amino acid, carbohydrate, lipid and nucleic acid metabolism

Front 6

Defects in amino acid metabolism

Examples

Back 6

PKU

Albinism

Alkaptonuria

Front 7

PKU

Mode of inheritance

Back 7

Autosomal ________

Hint 7

Autosomal recessive

Front 8

PKU

Genetic defect

Back 8

Deficiency in the enzyme.

Enzyme name?

Hint 8

phenylalanine hydroxylase

Front 9

PKU

Phenylalanine enzyme

Notes: Function

Back 9

PHE to tyrosine

Hint 9

it is blocked

Front 10

PKU

Symptoms

Back 10

Brain ____

mental _________

neurological ________

Hint 10

brain damage

retardation

symptoms

Front 11

PKU

Symptoms

Onset

Back 11

Brain damage

mental retardation

neurological symptoms

Onset?

Hint 11

2 to 3 months of age

Front 12

PKU

treatment

Back 12

Restricting dietary intake of ___.

Hint 12

Phe

Front 13

PKU

Detection

Back 13

Early detection is _____, state laws ____ testing of all ___.

Hint 13

important

require

newborns

Front 14

Albinism

Type of error

Back 14

Amino acid metabolism

Front 15

Albinism

Mode of inheritance

Back 15

Autosomal recessive

Front 16

Albinism

Defect

major symptoms

Back 16

Defect: lack of activity of tyrosine

Tyrosine to DOPA

Lack of ________ in the ___________.

Hint 16

pigment

skin

hair

eyes

poor vision, extreme sensitivity to sunlight.

Front 17

Albinism

Treatment

Back 17

Y/N

Hint 17

None

Front 18

Alkaptonuria

Notes: incidence

Back 18

1st defect characterized as an inborn error of metabolism

Front 19

Alkaptonuria

Mode of inheritance

Back 19

Autosomal recessive

Front 20

Alkapotnuria

Genetic defect

Back 20

Deficiency in homogentistic acid oxidase

Hint 20

Conversion of homogentistic acid to maleylacetoacetic acid is locked

Excess h acid and seen in urine

Front 21

Alkapotnuria

Major symptoms

Back 21

_____ urine

______ due to deposition of ________________________ in _______

Hint 21

black urine

arthritis due to deposition of hmogentistic acid in cartilage

Front 22

Alkapotnuria

Treatment and detection

Back 22

Not mentioned

Front 23

Defect in carbohydrate metabolism

List

Back 23

Galactosemia

Front 24

Galactosemia

Mode of inheritance

Back 24

Autosomal recessive

Front 25

Galactosemia

Genetic defect

Back 25

Deficiency in galactose1-phosphate uridyl transferase

Hint 25

Coded by multiple allele with different severity

Normal-50%to zero

Front 26

Galactosemia

Major symptoms

Back 26

___ distrubances

___hydration

______ of appetite

If untreated, can progress to ________, _______ formation and ____ due to accumulation of other __________.

Hint 26

GI distrubances

Dehydration

Loss of appetite

If untreated, can progress to jaundice, cataract formation and MR due to accumulation of other product.

Front 27

Galactosemia

Treatment

Back 27

Galactose-free diet

Lactose free milk

for how long?

Hint 27

Lifelong

Front 28

Defects in lipid and lipoprotein metabolism

List

Back 28

Tay-Sachs disease

Familial hypercholesterolemia

Front 29

Tay-Sachs disease

Mode of inheritance

Back 29

autosomal recesive

Front 30

Tay-Sachs disease

Defects

Back 30

Deficiency in hexominidase A

Notes: results

Hint 30

Reaction that splits off the terminal sugar group, hexosamine from ganglioside GM2 in nerve cell membrane is blocked

High concentrations of GM2 accumulate in the brain and the nervous system

Front 31

Tay-Sachs disease

Symptoms

Back 31

Normal at ____

By 6 months, _____, show __________ in ______, startle reaction to sudden __________, progressive loss of______ function, loss ability to ____ and ____.

Usually die by ________

Hint 31

Normal at birth

By 6 months, weak, show difficulty in feeding, startle reaction to sudden noises, progressive loss of motor fuction, loss ability to see and hear.

3 years old

Front 32

Tay-Sachs disease

Treatment

Back 32

N

Front 33

Tay-sachs disease

Detection

Back 33

screen for carriers by _______________________________________________

Detect ___________ through _______

Hint 33

Screen for carriers by measuring hexosamindase A levels in blood of high risk individuals

Detect abnormal fetuses through amniocentesis

Front 34

Familial Hypercholesterolemia

Type of error

Back 34

lipid

Front 35

Familial Hypercholestrolemia

Mode of inheritance

Back 35

autosomal dominant

Front 36

Familial Hypercholestolemia

Defect

Back 36

_______ in _____ for _______

Hint 36

mutation in gene coding for LDL receptors

Front 37

Familial hypercholesterolemia

Lack of LDL receptors

Result

Back 37

defective transport of cholesterol into cells

High cholesterol levels in blood

Cholesterol deposits in arteries

Front 38

FH

Symptoms: Heterozygotes

Back 38

Have 1/2 the number of normal receptors

and

at least 2x normal concentration of LDLI n blood

Increased risk for heart attacks

Front 39

FH

Symptoms: homozygous

Back 39

No functional receptors

Cholesterol concentration is 4 to 6x normal.

Heart attack begins as early as 2 and death usually occurs by age 30

Front 40

FH

Treatment

Back 40

Diet

Drugs to lower LDL

Front 41

FH

Detection

Back 41

Measure LDL receptor activity in cultured fetal amniotic cells of homozygous

Front 42

Disorder of nucleic acid metabolism

List

Back 42

Lesch-Nyhan syndrome

Front 43

Lesch-Nyhan syndrome

Mode of inheritance

Back 43

X-linked recessive

Front 44

Lesch-Nyhan syndrome

Defect

Back 44

mutation in HGPRT gene, an enzyme in the pathway of purine synthesis

Result

Hint 44

HGPRT: hypoxanthie guanine pphosphribosyl transferase

purine accumulates and converted to uric acid

Front 45

Lesch-Nyhan syndrome

Symptoms

Back 45

Renal failure

Spastic movements

MENTAL retardation

Strong tendency for self mutilation

Front 46

Lesch-Nyhan syndrome

Progression

Back 46

progressive

and

fatal

Front 47

Lesch-Nyhan syndrome

Treatment

Back 47

Drugs

Mechanism

Hint 47

Drugs to reduce uric acid levels and kidney damage; no treatment for neurologic symptoms

Front 48

Lesch-Nyhan syndrome

Detection

Back 48

Measurement of ___________ activity in ____________ to detect ____ and in _________from _____.

Hint 48

measurement of HGPRT enzymes activity in hair follicles to detect carriers and in amniotic cells from fetuses