TABLE 1.
Inborn errors of metabolism with psychiatric features.
| Disease group | OMIM No. | Psychiatric manifestations |
| Cofactors and Small Metabolites | ||
| Wilson disease | 277900 | Labile and irritable, antisocial behavior, wide-ranging, obsessive-compulsiveness, psychosis |
| Cobalamin deficiency (CblC, or G) | 277400 | Disturbed behavior, visual hallucinations |
| Folate deficiency (e.g., of methylene tetrahydrofolate reductase) | 236250 | As above but catatonia reported |
| Lesch-Nyhan syndrome | 300322 | Dementia, aggression, self-mutilation |
| Porphyria (e.g., acute intermittent) | 176000 | Delusion, anxiety, mania, psychosis |
| Ornithine transcarbamylase deficiency (other genetic hyperammonaemias) | 311250 | Episodic alienation, catatonia, delusions, psychotic outbursts; protein aversion |
| Succinic semialdehyde dehydrogenase deficiency | 234500 | Attention deficit, hyperactivity, sleep disturbance, obsessive-compulsions and autism |
| Monoamine oxidase deficiency | 309850 | Dementia, violence and (sexual) deviancy |
| Non-ketotic hyperglycinaemia | 605899 | Coma, agitation, behavioral difficulties |
| Cerebrotendinous xanthomatosis | 213700 | Mood changes, hallucinations |
| Peroxisomal Disorders | ||
| Adenoleukodsytrophy | 300100 | Attention deficit and disturbed behavior, fronto-temporal dementia mimics psychosis |
| Lysosomal disorders | ||
| Sanfilippo disease subtypes A, B, C and D Mucopolysaccharidosis (MPS type 3 A–D) | 252900, 252920, 252930 and 252940 | Hyperactivity, cognitive decline and aggression Delayed systemic or skeletal MPS features |
| Hunter disease (MPS type 2) | 309900 | Cognitive decline, hyperactivity and aggression |
| Alpha-mannosidosis and β-mannosidosis | 248500,248510 | Confusion, hallucinations and psychotic episodes |
| Niemann-Pick disease type C1 & C2 | 257220,607625 | Behavioral changes, attention-deficit hyperactivity disorder in juveniles; autistic and psychotic behavior in adults |
| Anderson-Fabry disease | 301500 | Depression, mild cognitive impairment |
| Metachromatic leukodystrophy | 250100 | Attention deficit and disturbed behavior, fronto-temporal dementia mimics psychosis |
| GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases) | 272800 268800 | Depression, delusions, hallucinations, ideas of reference–schizophrenia may antedate neurological in ~50% adults |
Representative disorders in which psychiatric manifestations occur: individual diseases are grouped operationally according to the principal biochemical abnormality. OMIM refers to assigned numbers in Online Mendelian Inheritance in Man (http://www.ncbi.nlm.nih.gov/omim/).