ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Revising the Psychiatric Phenotype of Homocystinuria.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Engineered bacteria: a novel era for metabolic, cardiovascular and cerebrovascular diseases therapy.Frontiers in cardiovascular medicine · 2026Review
- Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria.Molecular genetics and metabolism reports · 2025Article
- "My dream is to not have to be on a diet": a qualitative study on burdens of classical homocystinuria (HCU) from the patient perspective.Orphanet journal of rare diseases · 2025Article
- Impact of classical homocystinuria on health care resource utilization and costs in the United States: A retrospective cohort study.Molecular genetics and metabolism reports · 2025Article
- High clinical burden of classical homocystinuria in the United States: a retrospective analysis.Orphanet journal of rare diseases · 2025Article
- Detection of Morphological Abnormalities in Schizophrenia: An Important Step to Identify Associated Genetic Disorders or Etiologic Subtypes.International journal of molecular sciences · 2021Review
- Onset of psychiatric signs and impaired neurocognitive domains in inherited metabolic disorders: A case series.JIMD reports · 2021Article
- One-carbon pathway and cognitive skills in children with Down syndrome.Scientific reports · 2021Article
- Obsessive-Compulsive Symptoms as a Manifestation of Homocystinuria.Case reports in psychiatry · 2021Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeAssociations 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.
methodsThis study examines the prevalence of psychological symptoms within a sample of 25 patients with classical homocystinuria.
resultsPsychological 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.
conclusionThe 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.
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