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Table 1 Psychiatric manifestations of treatable hereditary metabolic disorders (general overview based on several cases from the literature)

From: Psychiatric manifestations of treatable hereditary metabolic disorders in adults

Psychiatric diagnosis Occurrence Psychiatric symptoms Associated symptoms HMD diagnosis
Schizophrenia Triggering factor   Disorders of consciousness, peripheral disease, rapid cognitive decline Remethylation disorders
  Chronic Delusions, hallucinations Juvenile cataract, tendinous xanthomata, cerebellar ataxia, spastic paraplegia, dementia Cerebrotendinous xanthomatosis
  Chronic, late onset Hallucinations, behavioural disturbances (+++) Tetraplegia, spastic paraplegia, cerebellar ataxia, polyneuropathy Metachromatic leucodystrophia
  Chronic, late onset Hallucinations, delusions, depression, cognitive decline Peripheral symptoms, ataxia GM2 gangliosidosis (Tay-Sachs disease)
Atypical psychosis   Depression, delusions, behavioural disorders Spastic paraplegia X-linked adrenoleukodystrophy
  Variable Confusion, delusions Ataxia, abnormal movements, supranuclear gaze palsy Niemann-Pick type C
Inebriation, personality disorder, Guillain-Barre disease, bipolar or schizoaffective disorder Triggering factor (alcohol, treatment): may be progressive Behavioural disturbances, impulsivity, depression, mania Intermittent pain Acute intermittent porphyria
Bipolar disorder Chronic Depression, behavioural disturbances Extra pyramidal symptoms, dysarthria, akinesia Wilson's disease
  Confusion, behavioural disturbances, hallucinations Headache, abdominal pain, change in diet Urea cycle disorders
Personality disorder Chronic Obsessive compulsive disorder, behavioural disturbances, impulsivity, disinhibition Ectopia lentis, marfanoid appearance, mental deficiency, thrombosis Homocysteinuria
  Chronic Behavioural disturbances, aggressiveness Mental deficiency, language delay, epilepsy, extrapyramidal symptom Creatine deficiency syndromes
  1. HMD hereditary metabolic disorders.