Which of the following is not a clinical manifestation of phenylketonuria?
- Excretion of phenyl pyruvic acid through urine
- Mental retardation
- Reduction in hair and skin pigmentation
- Correct — and chosenA broad palm with a characteristic crease
- Phenylketonuria (PKU), an inborn error of metabolism.
- It is autosomal recessive.
- Four candidate clinical features.
Which feature does not belong to PKU.
PKU is one missing enzyme and nothing more: phenylalanine hydroxylase. Without it, phenylalanine cannot be converted to tyrosine. Everything that goes wrong afterwards is downstream of that single blocked arrow — so the test for any candidate symptom is simply can I trace it back to that one step?
- Phenylalanine accumulates and is shunted down a side road into phenylpyruvic acid, which spills into the urine. That covers option A.
- The same accumulation is toxic to the developing brain, giving mental retardation. That covers option B.
- Tyrosine is the raw material for melanin. With tyrosine short, melanin is short, so hair and skin lose pigment. That covers option C.
- A broad palm with a single transverse crease has nothing to do with amino acid chemistry. It is a morphological feature, and it belongs to Down's syndrome. Option D is the odd one out.
| Option | Verdict | Reason |
|---|---|---|
| A | keep | Phenylpyruvic acid in the urine is the diagnostic sign that gives the disorder its name — “phenyl-keton-uria” is literally phenyl ketone in the urine. |
| B | keep | Accumulated phenylalanine damages the developing nervous system. This is why PKU is screened for at birth — a low-Phe diet started early prevents it. |
| C | keep | Melanin is made from tyrosine, and tyrosine is exactly what the blocked step fails to produce. Pale hair and skin follow directly. |
| D | rule out | This is the simian crease of Down's syndrome, a chromosomal disorder. It is the correct answer because it does not belong here. |