| Hyperhomocysteinemia |
CBS, MTHFR, MTR, MTRR, MMADHC |
Increased homocysteine levels; decrease in S-adenosylmethionine synthesis; NMDA receptors agonism; neurotoxic effects on dopaminergic neurons |
Major depressive disorder, schizophrenia, cognitive decline, OCD - in nearly 50% of cases |
| Prader-Willi syndrome |
Deletion 15q11.2-q13, maternal isodiosmy upd(15)mat, pathological imprinting |
No sufficient data |
Schizophrenia-like psychosis (10-30%), OCD spectrum disorders (71%), mental retardation (50-65%), major depressive disorder (23%), bipolar disorder (10%) |
| Fabry disease |
GLA |
Alpha-galactosidase A dificiency |
Major depressive disorder (46-58%), anxiety/panic attacks (39%), ADHD (24%) |
| Niemann-Pick diseases |
SMPD1, NPC1, NPC2 |
Accumulation of sphingomyelin |
Cognitive decline (90%), psychosis (62%), affective disorders (38%) |
| Lesch-Nyhan syndrome |
Long shoulder of X-chromosome of HPRT gene |
Dysfunction of HPRT enzyme |
Cognitive decline, inadequate behavior, autoaggression, aggression |
| Maple syrup urine disease |
DLD, BCKDHA, BCKDHB, DBT |
Decreased activity of BCKDH complex; decreased degradation of the branched-chain amino acids; hyperleucinemia inhibits tyrosine, tryptophan and other essential aminoacids transport through hematoencephalic barrier restricting substrate for serotonin synthesis |
ADHD, anxiety and depressive symptoms |
| Wilsons disease |
ATP7B |
Altered cooper transportation by cerulloplasmin |
Emotional lability, impulsivity, sexual deviations, major depressive disorder, schizophrenia-like psychosis, catatonic symptoms - in 10-20% of cases (more prevalent in neuro type) |
| Acute intermittent porphyria |
HMBS |
Partial deficiency of the enzyme hydroxymethylbilane synthase |
Depressive and anxiety disorders, insomnia, anorexia - 80-99% of cases; hallucinations - 5-29%; psychosis - 1% |
| Phenylketonuria |
PAH |
Increase in phenylalanine levels, decrease in tetrahydrobiopterin (BH4) |
Mental retardation - 30-79%; anxiety and depressive disorders, aggressive behavior - 5-29%; ADHD, ОCD, psychosis -1% |
| Primary urea cycle disorders |
CPS1, OTC, ASS1, ASL, ARG1, NAGS |
Ammonia metabolism defects, ammonia and other metabolites accumulation |
Hallucinations, atypical depression, schizophrenia-like psychosis |
