Gp deficiency is seen in –
**Question:** Gp deficiency is seen in -
A. glucose-6-phosphate dehydrogenase (G6PD) deficiency
B. vitamin B12 deficiency
C. folic acid deficiency
D. cytochrome P450 deficiency
**Core Concept:**
G6PD, also known as glucose-6-phosphate dehydrogenase, is a crucial enzyme involved in the pentose phosphate pathway (PPP), which plays a vital role in maintaining cellular integrity, protecting red blood cells from oxidative stress, and producing nucleotides and nicotinamide adenine dinucleotide phosphate (NADPH). G6PD deficiency is an X-linked genetic disorder affecting the G6PD gene, leading to reduced or absent enzyme activity.
**Why the Correct Answer is Right:**
G6PD deficiency is caused by mutations in the G6PD gene located on the X chromosome. As it is an X-linked genetic disorder, males with only one normal G6PD allele are heterozygous (G6PD Medea), while females with one normal and one mutated allele are usually asymptomatic heterozygous carriers. When affected individuals (males) consume certain food or drugs that induce oxidative stress, red blood cells undergo hemolysis (destruction), leading to anemia, jaundice, and symptoms like fever, malaise, and hepatosplenomegaly.
**Why Each Wrong Option is Incorrect:**
A. Vitamin B12 (cobalamin) deficiency is a separate condition affecting mitochondrial function, not related to G6PD deficiency. Vitamin B12 deficiency primarily causes megaloblastic anemia, peripheral neuropathy, and gastrointestinal issues, not hemolysis and jaundice as seen in G6PD deficiency.
B. Vitamin B12 deficiency is a separate condition affecting mitochondrial function, not related to G6PD deficiency. Vitamin B12 deficiency primarily causes megaloblastic anemia, peripheral neuropathy, and gastrointestinal issues, not hemolysis and jaundice as seen in G6PD deficiency.
C. Folic acid deficiency mainly causes megaloblastic anemia, similar to vitamin B12 deficiency, not hemolysis and jaundice as seen in G6PD deficiency.
D. Cytochrome P450 deficiency is a group of enzymes involved in drug and xenobiotic (foreign substance) detoxification, unrelated to G6PD deficiency. Cytochrome P450 deficiency causes drug interactions, liver dysfunction, and potential toxic effects, not hemolysis and jaundice as seen in G6PD deficiency.
**Clinical Pearls:**
G6PD deficiency is a common genetic disorder affecting millions of people worldwide, predominantly in Mediterranean, Asian, and African populations. This condition is crucial to recognize as its symptoms may mimic other conditions, leading to unnecessary investigations, misdiagnosis, and potential harm from certain drugs and food triggers. An awareness of G6PD deficiency is crucial for safe prescribing practices and patient care.