Ch 10 Inborn Errors of Metabolism

Question 1

PKU

Answer 1

AR disorder caused by sever deficiency of the enzyme PAH resulting in hyperphenylalaninemia
normal at birth but 6 mo sever mental retardation is evident
seizures, decreased pigmentation of hair and skin, eczema
strong musty or mousy odor due

Question 2

glactosemia

Answer 2

AR disorder of galactose metabolism resulting from accumulation of galactose 1 phosphate in tissues
type I is most common, rxn 2 glactose 1 phosphate urdyl transferase

Question 3

glactosemia - clinical presentation

Answer 3

liver, eyes, and brain
hepatomegaly 
opacification of lens
failure to thrive
vomiting and diarrhea after milk 
jaundice and hepatomegaly 
mental retardation aminoaciduria

Question 4

cystic fibrosis (mucoviscidosis)

Answer 4

inherited disorder of ion transport that affects fluid secretion in exocrine glands and in the epithelial lining of the respiratory, gastrointestinal, and reproductive tract
most common lethal genetic disease that affects Caucasian populations
primary defect results from abnormal function of epithelial chloride channel protein encoded by the CFTR gene 7q31.2

Question 5

other factors that modify the frquency and severity of certain organs in CF

Answer 5

modulate neutrophil function - MBL2, TGF beta, IFRD1

Question 6

CF - morphology

Answer 6

sweat glands are not effected
pancreas - blockage of the ducts, squamous metaplasia, meconium ileus 
liver - later in life 
pulmonary - viscous mucus secretions 
azoospermia and infertility

Question 7

CF - clinical features

Answer 7

most present because of meconium ileus
cardiorespiratory complications
liver disease
sinopulmoary disease, gastrointestinal manifestations