Handout #4
I.
Identify the metabolic problem and the resulting presentation in each of the following recessive
inheritance syndromes: Phenylketonuria, Galactosemia, Tay-Sachs Disease, Hurler syndrome,
Lesch-Nyhan Syndrome, Gaucher’s disease, Neimann-Pick Disease, Wilson’s Disease, Cretinism
A. Phenylketonuria
1. AKA: __________________________________
a. Gene on Chrom. # ______________ (maybe ___________ & __________)
b. _______________ common inborn error of _________________________
2. Metabolic problem
a. Cannot breakdown _____________________  _____________________
3. Screening: _____________________ test
a. When: ________________________________________________________
4. S&S
a. Appear___________________________________
b. ________ (if not detected early)
c. ______________ & ________________
d. ______________ odor
e. _____________________________
5. Common problems
a. __________________
b. __________________
c. __________ skin / _______________
d. __________________
e. *__________________ PKU
1) ______IQ
2) ______________ disabilities
3) ______________ problems
4) ______________
5) ______________
6) Impaired ________________________
6. Treatment
a. Low - ___________________ (phenylalanine) diet
b. Monitor _________________ levels
c. ____________ care
d. Symptom _________
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B. Galactosemia
1. Chrom. #_________
2. Metabolic problem:
a. Missing _____________ enzyme 
b. Can’t digest ____________ products: ______________________
c. ______ galactose  ________________  Damage
1) ________________
2) ________________
3) ________________
4) ________________
3. S&S
a. Appear: _________________
b. ________________________
c. ________________________
d. Lethargy & irritability
e. ________________________
f.
ID______________________
g. May be due to ___________________
4. Common problems
a. __________ (severe)
b. Aminoaciduria: ______________________________________
c. Hepatomegaly: ______________________________________
d. ______________________
e. ___________ glycemia
5. Treatment
a. _________________ - free diet: __________________________
b. _________________ supplements
C. Tay-Sachs Disease
1. Chromosome # ____________
a. Increased incidence ____________________
2. Metabolic problem
a. Body lacks ________________________  _______ ganglioside 
_______________ & _______________ cell destruction  deathmosis
3. Common features
a. Appear: _____________________
b. ____________ & ______________
c. _______ muscle tone
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d. Irritable
e. __________________
f.
__________________
4. Common problems
a. ______________ cure or treatment
b. Prognosis: _________________________
5. Treatment
a. ____________________ care
b. ____________________ counseling
D. Hurler Syndrome
1. AKA: _________________________ or ______________________
2. Metabolic problem
a. Cannon breakdown ______________ molecule glysoaminoglycans
3. Common features
a. Appear: __________________
b. ___________ hands
c. _________ growth
d. ______________________ problems
e. __________________ disease
f.
______________, coarse ____________________ features
g. ID  _______________________
4. Common problems
a. _____________________ & ______________________
b. _________________
c. _________________ clouding
d. _________________
e. _________________
5. Treatment
a. __________________ care
b. Prognosis: ________________
E. Lesch-Nyhan Syndrome
1. AKA: hyperuricemia or _______________________ syndrome
a. _____ - linked ___________________________
2. Incidence: ________________________
3. Metabolic problem:
a. Lack enzyme needed to recycle _________________  ________________
4. Common features
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a. Progressive __________________
b. Compulsive self ________________________ behavior
5. Common problems
a. _________________
b. Kidney __________________
c. Self _____________________ (lips, mouth, tongue, fingers)
6. Treatment
a. Rx: _____________________________ ______________________________
b. ______________________ modification
c. ______________________
d. _____________ environment
F. Gaucher’s disease
1. Chromosome # _______________
2. Incidence: ___________________
3. Metabolic Problem
a. Glucocerebroside (______________) accumulates in visceral ____________
4. S&S
a. Appear: _______________________
b. Progressive _______________________ deterioration
1) _________________
2) Spleen
3) _________________
4) Bone __________________
5) _________________
5. Problems
a. _____________
b. Bone / joint _________________
c. _____________
6. Treatment
a. ________________ counseling
b. ________________ replacement therapy
G. Neimann-Pick Disease
1. Chromosome # _________________
2. Incidence: _____________________
3. Metabolic problem
a. Can’t metabolize _______________________________ 
b. _____________ storage disease 
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c. _____________ death and ________________ failure
4. Common Features / problem
a. ____________
b. Progressive _______________ skill loss
c. Enlarged _________________ & spleen  __________________________
d. S&S related to ___________________ affected
5. Treatment
a. Supportive & _______________________
b. ____________________ counseling
H. Wilson’s Disease
1. Gene on Chrom # _______________
2. Metabolic Problem
a. Can’t metabolize _________________________
3. S&S
a. Appear: __________________________
b. __________________________ 
c. Affects ____________________ and _____________________
d. ________________ - Fleischer __________________
4. Treatment
a. ______________________ diet
b. ______ _______________ supply
I.
Cretinism
1. AKA: Congenital ______________________________________
2. Metabolic Problem
a. Absence / deficiency of _________________________ hormone
3. Dx tests: _________________________________________
4. Common Features
a. _________________________
b. Large ____________________
c. ____________ metabolic rate
d. Intolerance to _____________
5. Common Problems
a. _________________
b. Poor ___________________
c. _______________________
d. _______________________
6. Treatment
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a. ______________ diagnosis
b. Replace ______________________________
J.
Small Group Questions
1. Define the metabolic problem for each of the following disorders Phenylketonuria,
Galactosemia, Tay-Sachs Disease, Hurler syndrome, Lesch-Nyhan Syndrome, Gaucher’s
disease, Neimann-Pick Disease, Wilson’s Disease, Cretinism
2. What is the one or two distinguishing features assoc. with each disorder
3. What is the common treatment for each disorder.
4. Identify any common groups of people who are more likely to acquire these disorders
5.
II.
Describe features of the following multiple etiology congenital disorders: Cornelia de Lange
Syndrome, Laurence-moon syndrome
A. Cornelia de Lange Syndrome
1. Chromosome # _________________
2. Common Features
a. ______________________
b. ______________________
c. __________ birth weight
d. __________ stature
e. ID ___________________
f.
_____________________
g. _____________________
h. ________ palate
3. Common problems
a. ____________
b. Self - ___________________
c. __________________ - problems
d. _______________________
e. Cleft _______________________
f.
____________ Loss and _________________ delay
4. Treatment
5. Hormone: __________________________
6. __________________________ aids
7. __________________________ modification
B. Laurence-moon syndrome
1. Gene on Chrom #___________________________
2. Incidence: ______________________
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C. Common features
1. Generalized ________________________
2. _______________________
3. _______________________ defects
4. Progressive ___________________ loss
5. Hypo____________________________
D. Common Problems
1. ____________
2. ____________________
3. ________________ & ________________ disorders
4. ____________________ problems
5. _________ dactyly & ___________ dactyly
E. Treatment
1. ________________
2. ________________ aids
3. ________________
4. ________________ care
5. Surgery: ____________________________________________________________
F. Small Group Questions
1. What is meant by multiple etiology congenital disorders?
2. Describe features of the following multiple etiology congenital disorders: Cornelia de
Lange Syndrome, Laurence-moon syndrome
3.
III.
Differentiate between microcephaly and macrocephaly
A. Microcephaly
1. Causes: _____________________________________________________________
2. Common Feature: ____________________________________
3. Common Problems
a. ____________
b. ___________________________
c. _________ tonia
d. ___________________________
e. __________________ problems
4. Treatment
a. _____________ intervention
b. ________________________ medication
B. Macrocephaly
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1. Cause: __________________________
2. Common Feature: ___________________________________________________
3. Common problems
a. ________
b. ________ ICP
4. Treatment:
a. ___________________________
IV.
Differentiate between hydrocephaly and megaloencephaly
A. Hydrocephaly
1. ______________ on the brain
2. Due to: __________________
3. Common Features
a. Assoc. with: ____________________________
b. _________ICP
c. __________________ head
d. ________________________ eyes
4. Common Problems
a. _____________________
b. Irritability
c. __________
d. _________________ changes
e. _________________ problems
5. Treatment
a. Monitor _________________________
b. __________________
c. ________________________ treatment
B. Megaloencephaly
1. 1o - _______________________________________
2. 2o - _______________________________________
3. ID _________________________________________
4. Common features
a. _____ brain ______________: ___________________
1) Normal: _______________________________
b. Deformed _____________________
5. Common problems
a. ________ / _________
b. ___________________
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c. __________________ deficits
6. Treatment
a. ___________________ tx
C. Small Group Questions
1. Differentiate between microcephaly and macrocephaly
2. What are common causes of both (if known)
3. Differentiate between hydrocephaly and megaloencephaly
4. What is the treatment for hydrocephaly
V.
Explain the difference between cultural-familial retardation and psychosocial disadvantage
A. cultural-familial retardation
1. ID ___________________
2. NO ___________________________ disability
3. D/T ________________________________ causes
a. Poor________________________
b. ____________________________
c. Disease
d. ______________________
B. psychosocial disadvantage
1. D/T ____________________________ factors
2. No ____________________________
3. Not _________________________________
4. ______________
5. ______________
C. Small Group Questions
VI.
Explain what is meant by a neural tube defect and describe the difference between the various
forms of this type of disorder.
A. Pathophysiology
1. _____________________ Neural ______________defect
2. Incomplete __________________ of the ___________________
B. 3 Levels
1. Spina Bifida Occulta
a. ____________________ of the spine do not ___________________
b. But the spinal cord and meninges remain in ____________________
c. And ____________________ usually covers the defect
d.
2. Meningocele
a. ______________________ protrude from the spinal canal
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b. But the ____________________________remains in place
c.
3. Myelomeningocele
a. Both the __________________ and the ____________________protrude
from the spinal canal
b. Co-morbidity: _________________________________
4. Etiology
a. __________________________________
b. ___________________________ deficiency during PG: _______ month
5. Diagnosis
a. __________________
b. ______________________________________________
6. Treatment: ______________________
a. E.G.
____________________________________________________________
C. Small Group Questions
1. What deficit is associated with spina bifida?
2. What diagnostic test is used to detect spina bifida invitro?
3. Name three foods high in folic acid.
4. Describe the difference between Spina Bifida occult, meningocele and
myelomeningocele.
VII.
Identify non-genetic biological causes of development disabilities factors that are required:
Prenatally, Perinatally, Postnatally
A. Prenatally
1. _________________ substances
2. ___________________________
B. Perinatally
1. ___________________________
2. Birth _______________________
a. Deprived _____________________
b. ___________________________
c. ___________________________
C. Postnatally
1. Brain____________________:
a. ________________________________
b. T__________________B______________I __________________
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