Ann Gen Psychiatry. 2014 Sep 24;13:27. doi: 10.1186/s12991-014-0027-x. eCollection 2014.

Psychiatric manifestations of treatable hereditary metabolic disorders in adults.

Demily C1, Sedel F2.

• 1Centre for the Detection and Management of Psychiatric Disorders of Genetic Origin, Hospital le Vinatier and UMR 5229 (CNRS and Lyon University), 95 Bld Pinel, Bron 69677, Cedex, France.
• 2Federation for Diseases of the Nervous System, Reference Centre for Lysosomal Diseases, Hospital Pitié Salpêtrière, Paris 75013, France.

Abstract

Detecting psychiatric disorders of secondary origin is a crucial concern for the psychiatrist. But how can this reliably be done among a large number of conditions, most of which have a very low prevalence? Metabolic screening undertaken in a population of subjects with psychosis demonstrated the presence of treatable metabolic disorders in a significant number of cases. The nature of the symptoms that should alert the clinician is also a fundamental issue and is not limited to psychosis.

Hereditary metabolic disorders (HMD) are a rare but important cause of psychiatric disorders in adolescents and adults, the signs of which may remain isolated for years before other more specific organic signs appear. HMDs that present purely with psychiatric symptoms are very difficult to diagnose due to low awareness of these rare diseases among psychiatrists. However, it is important to identify HMDs in order to refer patients to specialist centres for appropriate management, disease-specific treatment and possible prevention of irreversible physical and neurological complications. Genetic counselling can also be provided.

This review focuses on three HMD categories: acute, treatable HMDs (urea cycle abnormalities, remethylation disorders, acute intermittent porphyria); chronic, treatable HMDs (Wilson's disease, Niemann-Pick disease type C, homocystinuria due to cystathionine beta-synthase deficiency, cerebrotendinous xanthomatosis); and chronic HMDs that are difficult to treat (lysosomal storage diseases, X-linked adrenoleukodystrophy, creatine deficiency syndrome). We also propose an algorithm for the diagnosis of HMDs in patients with psychiatric symptoms.

KEYWORDS:

Adults; Diagnosis; Inherited metabolic diseases; Neurological signs; Psychiatric disorders; Treatment

PMID:

25478001