Panel B shows the homozygous haplotype shared by the affected persons. Squares denote male family members, circles female family members, black symbols affected family members, and diamonds miscarriages double bars indicate consanguineous marriages, and the arrow indicates the index patient. Genome investigation revealed a mutation in the gene encoding VMAT2 that compromises transport of biogenic amines into synaptic vesicles, resulting in impairment of their synaptic transmission without detectable reductions in their amounts. We describe members of a family with symptoms of deficiencies in dopamine (dystonia, parkinsonism, and oculogyric crises), serotonin (sleep and mood disturbance), and epinephrine and norepinephrine (diaphoresis, temperature instability, ptosis, and postural hypotension), with no demonstrable deficiency of neurotransmitters in the CSF. A deficiency in dopamine results in movement disorder deficient norepinephrine or epinephrine causes autonomic dysfunction and serotonin deficiency leads to sleep and psychiatric disturbances. 10 Affected persons present in early childhood with symptoms referable to the affected neurotransmitter, and the disorders are diagnosed by measurement of neurotransmitter breakdown products in the cerebrospinal fluid (CSF). Known disorders of biogenic amine neuromediators (dopamine, norepinephrine, epinephrine, and serotonin) involve defects in nine enzymes 1-9 and one transporter. The most trusted, influential source of new medical knowledge and clinical best practices in the world. Information and tools for librarians about site license offerings. Valuable tools for building a rewarding career in health care. The authorized source of trusted medical research and education for the Chinese-language medical community. The most advanced way to teach, practice, and assess clinical reasoning skills. Information, resources, and support needed to approach rotations - and life as a resident.

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Epinephrine deficiency diseases