A autosomal recessive disorder caused by mutation in SLC19A2 gene and characterized by megaloblastic anemia, diabetes mellitus and sensorineural hearing loss. This child responds to which nutrient
**Question:** A child with an autosomal recessive disorder caused by a mutation in the SLC19A2 gene, characterized by megaloblastic anemia, diabetes mellitus, and sensorineural hearing loss. This child responds to which nutrient?
**Core Concept:**
Autosomal recessive disorders are genetic conditions that require inheritance of two mutated alleles (one from each parent) for the disease to manifest. In this case, the SLC19A2 gene is involved, which is responsible for riboflavin (vitamin B2) transport across cell membranes. Megaloblastic anemia, diabetes mellitus, and sensorineural hearing loss are associated symptoms of a deficiency of riboflavin.
**Why the Correct Answer is Right:**
Individuals with an SLC19A2 deficiency experience a lack of riboflavin absorption, leading to its deficiency in the body. Riboflavin is essential for the proper functioning of several enzymes involved in various cellular processes, including DNA synthesis and repair, electron transport chain in mitochondria, and antioxidant defense.
**Why Each Wrong Option is Incorrect:**
A. Vitamin B12 deficiency (homocysteine accumulation) is not related to megaloblastic anemia, diabetes, and hearing loss.
B. Vitamin B6 deficiency (pyridoxine) does not result in these specific symptoms but rather neurological complications, such as peripheral neuropathy and ataxia.
C. Vitamin B1 deficiency (thiamine) is associated with Wernicke-Korsakoff syndrome, which presents with encephalopathy, ataxia, and neuropsychiatric symptoms but not megaloblastic anemia, diabetes, and sensorineural hearing loss.
D. Vitamin D deficiency results in rickets, osteomalacia, and secondary hyperparathyroidism, not the mentioned symptoms.
**Correct Answer:**
The correct answer is B. Vitamin B6 deficiency (pyridoxine) can cause the mentioned symptoms. Pyridoxine is involved in several physiological processes, including glucose homeostasis, neurotransmitter synthesis, and immune function. Deficiency leads to megaloblastic anemia (due to impaired DNA synthesis in red blood cells), diabetes mellitus (impact on glucose homeostasis), and sensorineural hearing loss (due to impaired neurotransmitter synthesis).
**Core Concept:**
The correct answer highlights the importance of vitamin B6 in various cellular processes, including glucose homeostasis, neurotransmitter synthesis, and immune function. A deficiency in pyridoxine leads to megaloblastic anemia, diabetes mellitus, and sensorineural hearing loss.
**Why Each Wrong Option is Incorrect:**
A. Vitamin B12 deficiency (homocysteine accumulation) does not cause the mentioned symptoms; it leads to neurological complications like peripheral neuropathy and ataxia.
C. Vitamin B1 deficiency (thiamine) is associated with Wernicke-Korsakoff syndrome, characterized by encephalopathy, ataxia, and neuropsychiatric symptoms. It does not cause the described symptoms.
D. Vitamin D deficiency