Amino Acidurias — PKU, Alkaptonuria, Maple Syrup MCQ — NEET PG Practice Question | NEETPGAI
Amino Acidurias — PKU, Alkaptonuria, Maple Syrup
medium
flask-conical Biochemistry
A 5-year-old boy from rural Maharashtra presents with progressive joint pain, stiffness in the knees and ankles, and dark brown discolouration of the sclera and ear cartilage. His urine darkens on standing for several hours. Serum creatinine is normal. Urine chromatography shows elevated homogentisic acid. Genetic testing confirms homozygous mutations in the HGD gene. What is the most appropriate next step in management?
See the options, answer & explanation
Sign in free to reveal the answer choices, the correct answer, the detailed explanation, and AI-powered insights for this question.