Mixed 42 Flashcards
1
Q
Characteristics of Phenylketonuria
A
AR. ↓ phenylalanine hydroxylase or BH4 cofactor.
↑ phenylalanine
Intellectual disability, growth retardation, seizures, gait abnormalities, eczema, musty body odor
2
Q
Defect in B cell maturation, resulting in abscent mature B cells and severely low immunoglobulin levels. T cell numbers and function intact. Primary follicles and germinal centers of lymph nodes absent.
Recurrent bacterial and enteroviral infections anfter 6 months
A
X-linked (Bruton) agammaglobulinemia
3
Q
In which patients S. pneumoniae can cause sepsis
A
Px with Sickle cell disease and asplenic patients
