Table 2 Synthesis of main clinical, contextual, ophthalmologic symptoms associated with 7 treatable IEM associated with schizophrenia-like symptoms
Disorder | Clinical signs | Context | Eye exam | Biomarkers |
|---|---|---|---|---|
Wilson disease (WD) | Tremor | – | Kayser-Fleischer ring | Ceruloplasmin |
Dystonia | ||||
Dysarthria | ||||
Urea cycle disorders (UCDs) | Confusion | Protein diet | – | Hyperammoniemia |
Abdominal pain | Post surgery | |||
Nausea/vomiting | Drugs* | |||
Homocysteinemia (MTHFR) | Ataxia | – | – | Homocysteinemia |
Mental regression | Â | Â | Methioninemia | |
Homocysteinemia (CbS) | Thromboembolism | Protein diet | Severe myopia | Homocysteinemia |
Scoliosis | Post surgery | Ectopic lens | Methioninemia | |
Marfan-like cerebellar signs | ||||
Niemann-Pick disease type C (NP-C) | Dystonia + ataxia Dysarthria | Neonatal icterus | Supranuclear vertical | Skin biopsy |
Splenomegaly | Slow progression | gaze palsy | Filipin test | |
NPC1 and NPC2 gene test | ||||
Cerebrotendinous xanthomatosis (CTX) | Chronic diarrhea | – | Juvenile cataract | High cholestanol |
Spastic paralysis | ||||
Porphyria (POR) | Black or red urine | Periodic | – | Porphobilinogens (URINE) |
Constipation | ||||
Confusion | ||||
Abdominal pain | ||||
Nausea/vomiting |