Publication Details

Title :

Revising the Psychiatric Phenotype of Homocystinuria


Genet Med.

Impact Factor:



Almuqbil MA1,2,3, Waisbren SE4, Levy HL4, Picker JD4,5.


1 Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.

2 Division of Pediatric Neurology, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

3 King Abdullah International Medical Research Center, King Abdullah Specialist Children’s Hospital-Ministry of National Guard, Riyadh, Saudi Arabia.

4 Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.

5 Department of Child & Adolescent Psychiatry, Boston Children’s Hospital, Boston, MA, USA.

Year of Publication:





Associations of psychiatric and psychological symptoms with homocystinuria (HCU) have been described in multiple reports. This retrospective study was undertaken to refine the psychological phenotype among HCU patients and identify biomedical markers that could be used for prediction of those psychiatric or psychological symptoms.

This study examines the prevalence of psychological symptoms within a sample of 25 patients with classical homocystinuria.

Psychological symptoms were noted in 16 of the 25 patients in the sample (64%), including a high prevalence of both anxiety (32%) and depression (32%) and correlated with IQ < 85. There was no difference in the type or the number of psychological symptoms between those diagnosed from newborn screening and early treated and those treated after 2 years of age.

The results support the possible role of homocysteine as a risk factor for psychological and psychiatric problems and cognitive deficits and suggest that earlier diagnosis and treatment may reduce risk of their occurrences. Although early treatment clearly prevented serious medical complications, psychological and psychiatric symptoms were not associated with medical complications, highlighting the need for continued investigation.