An inborn error of metabolism that causes premature destruction of RBC?
A. G6PD
B. Homocystinuria
C. Phenylketonuria
D. Celiac Disease
Correct Answer: A. G6PD
Glucose-6-phosphate dehydrogenase deficiency (G6PD) is an X-linked recessive hereditary disease characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH), a metabolic enzyme involved in the pentose phosphate pathway, especially important in red blood cell metabolism.
Option B: Homocystinuria is a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites (homocysteine, homocysteine-cysteine complex, and others) in blood and urine. Normally, these metabolites are not found in appreciable quantities in blood or urine.
Option C: Phenylketonuria (PKU) is an inborn error of metabolism (IEM) most often caused by missense mutations in the gene encoding phenylalanine hydroxylase (PAH), which catalyzes the hydroxylation of phenylalanine (Phe) to generate tyrosine (Tyr). Elevated blood Phe levels and decreased Tyr levels characterize PKU. Newborns with PKU can appear normal at birth with the first signs appearing after several months.
Option D: Celiac disease, also known as gluten-sensitive enteropathy, is an autoimmune disease of the small intestine. Celiac disease is a condition in which the body responds to gluten with an inappropriate immune response causing small intestinal inflammation and damage.