Env and childhood dz

Question 1

Phenylketonuria inheritance and cause

Answer 1

AR

Mutation in PAH or regeneration of BH4

Question 2

Phenylketonuria presentation

Answer 2

• Rising plasma phenylalanine in first few weeks of life -> impaired brain development and mental retardation
• Sx, decreased pigmentation (reduced tyrosine -> reduced melanin), and eczema

Question 3

infants born to PKU mothers

Answer 3

microcephalic and mentally retarded

Question 4

Galactosemia

Answer 4

Enzymatic defects in the metabolism of galactose

Question 5

Inheritance of galatosemia

Answer 5

Most common: AR mutation in galactose-1-phosphate uridyl transferase (GALT) (accumulate gal-1-p, galactitol and galactonate)

Question 6

Galactosemia presentation

Answer 6

Failure to thrive and vomiting and diarrhea after milk ingestion
Gepatomegaly due to hepatic fat accumulation, cirrhosis, cataracts, and nonspecific CNS alterations