Psychiatric Disease

Abstract

Psychiatric manifestations may be the only symptom of inherited metabolic diseases before additional neurological or other clinical signs are recognized. Inherited metabolic diseases can manifest acutely as attacks of delirium, hallucinations, mental confusion, hysteria, schizophrenia, or psychosis, e.g., in urea cycle disorders, organic acidurias, maple syrup urine disease, porphyrias, methylene tetrahydrofolate reductase deficiency, defects of cobalamin metabolism, Morbus Fabry, and metachromatic leukodystrophy. In infancy, autistic features may be a leading clinical feature of metabolic diseases, e.g., in urea cycle disorders, phenylketonuria, inborn errors of biopterin or purine metabolism. Psychiatric manifestations are mostly combined with regression of cognitive functions, e.g., in X-linked adrenoleukodystrophy or mucopolysaccharidosis type III (Sanfilippo). Patients with late-onset lysosomal storage disorders may initially present with psychiatric diagnoses such as dementia, psychosis, or emotional illness. Psychiatric manifestations can become most important in the long-term management of many patients with metabolic disorders.