one who carries two different mutant alleles of the same gene.
Individuals with the Z/Z genotype have only ____ α1-AT activity and account for most cases of the disease.
10-15% of normal
delivering human SERPINA1 to the pulmonary epithelium
Most PKU cases are caused by defects in the _____ encoding phenylalanine hydroxylase.
ATD carrier frequency?
____, relevant to ATD, is made in the liver and secreted into plasma.
α1-antitrypsin (ATT or SERPINA1)
The β subunit gene HEXB resides on chromosome ___.
Most PKU patients are ____ (i.e. having two different mutant alleles of the PAH gene).
What is the frequency of T-S in the general population?
HexA is a heterodimer of ___, which are encoded by the HEXA and HEXB genes, respectively.
Phenylketonuria (PKU) phenotype
Microcephaly; possible profound mental retardation;. seizures, tremors, and gait disorders
Most ATD diseases are associated with two mutant alleles, the ___ and ___ alleles.
Z and S
findings in PKU: urine and sweat
High levels of phenylalanine metabolites and "mousy" odor
Elastase can destroy the connective tissue proteins (particularly elastin) of the lung, causing _____ and ______.
alveolar wall damage; emphysema
Other high-risk groups for T-S are ____, _____, and _____.
certain French-Canadian communities of Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population of Louisiana
What does T-S disease destroy?
neurons in the brain and spinal cord
Although HexA is a ubiquitous enzyme, the impact of T-S is primarily in the ____ where most of GM2 ganglioside is synthesized.
the existence of multiple mutant alleles of a single gene
PKU carrier frequency
α1-antitrypsin (ATT or SERPINA1) is made in the ____ and secreted into ____.
plasma findings in PKU
High phenylalanine and low tyrosine levels
What is the frequency of T-S in the Ashkenazic Jewish population?
_____ patients have defects in both Hexosaminidase A and Hexosaminidase B (HexB).
Sandhoff disease is caused by a defective ___ subunit; both ____ and ____ activities are affected.
β; HexA and HexB
Although HexA is a ubiquitous enzyme, the impact of T-S is primarily in the brain where most of _____ is synthesized.
a population with higher-than-expected risk for a particular AR disease
_____ can destroy the connective tissue proteins (particularly elastin) of the lung, causing alveolar wall damage and emphysema.
Elastase can destroy the ______ , causing alveolar wall damage and emphysema
connective tissue proteins (particularly elastin) of the lung
Tay-Sachs disease (GM2 gangliosidosis type I)