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An Indian Family with Tyrosine Hydroxylase Deficiency
Jyotindra Narayan Goswami1, Naveen Sankhyan, Pratibha D Singhi
1Pediatric Neurology and Neurodevelopment Unit, Department of Pediatrics, Advanced Pediatrics Centre, PGIMER, Chandigarh, India. Correspondence to: Prof. Pratibha Singhi, APC, PGIMER, Chandigarh 160 012, India. doctorpratibhasinghi@gmail.com.
Background:
Tyrosine Hydroxylase deficiency is a rare neurotransmitter disorder.
Case Characteristics:
An Indian family with the disorder.
Observations:
Phenotypic variation, elevated serum prolactin, genetic confirmation, and partial treatment-responsiveness.
Message:
Tyrosine Hydroxylase deficiency is a treatable inborn error of metabolism and serum prolactin assists in diagnosis.
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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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