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We describe the clinical course of an infant with tyrosine hydroxylase (TOH) deficiency over a 30\u2010month period. The parents are consanguineous, and genetic analysis revealed the infant to be homozygous for the common G698A mutation in the TOH gene. TOH deficiency can be seen as a model of pure catecholamine deficiency. Experimental evidence, reports of other disorders of biogenic amines, and our experience with this infant suggest that the symptoms of catecholamine deficiency in infancy can be broadly subdivided. Signs of dopamine deficiency include tremor, hypersensitivity to levadopa (<jats:sc>L<\/jats:sc>\u2010dopa) therapy, oculogyric crises, akinesia, rigidity, and dystonia. Manifestations of norepinephrine deficiency include ptosis, miosis, profuse oropharyngeal secretions, and postural hypotension. Hypersensitivity to <jats:sc>L<\/jats:sc>\u2010dopa was a particular management problem in this infant. \u00a9 2002 Movement Disorder Society.<\/jats:p>","DOI":"10.1002\/mds.10095","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T19:42:44Z","timestamp":1030304564000},"page":"354-359","source":"Crossref","is-referenced-by-count":60,"title":["Tyrosine hydroxylase deficiency: Clinical manifestations of catecholamine insufficiency in infancy"],"prefix":"10.1002","volume":"17","author":[{"given":"Padraic J.","family":"Grattan\u2010Smith","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ron A.","family":"Wevers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerry C.","family":"Steenbergen\u2010Spanjers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor 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