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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.