Monoamine oxidase-A (MAO-A) deficiency.
Incidence
This condition is a very rare disease that has been reported only in one family. It seems to be an autosomal recessive condition.
Clinical Characteristics
This condition is a very rare disease that has been reported only in one family characterized by aggressive and violent behavior in adolescents or adulthood associated with mental retardation which can be present since childhood. Patients may have stereotyped movements in adolescence. Central nervous system findings are mental retardation and developmental delay. It seems to be an autosomal recessive condition. All routine laboratory is normal. Special laboratory findings are an increase in urine normetanephrine and 3-methoxytyramine as well as serotonin and tyramine. Vanillylmandelic acid (VMA) and homovanillic acid (HVA) are both decreased in urine. 3-methoxy-4-hydroxyphenylglycol (MHPG) and 5-hydroxyindoleacetic acid (5HIAA) in urine can be normal or decreased. Monoamine oxidase-B in plateletes is normal. Monoamine oxidase-A in fibroblasts is very decreased.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-F. Monoamine oxidase-A in fibroblasts is very decreased. All routine laboratory is normal. Special laboratory findings are an increase in urine normetanephrine and 3-methoxytyramine as well as serotonin and tyramine. Vanillylmandelic acid (VMA) and homovanillic acid (HVA) are both decreased in urine. 3-methoxy-4-hydroxyphenylglycol (MHPG) and 5-hydroxyindoleacetic acid (5HIAA) in urine can be normal or decreased.