Autoszomális recesszív
Caused by changes in the ALDH4A1 gene, which encodes the enzyme that breaks down pyrroline-5-carboxylate (P5C) in the proline pathway. Build-up of this reactive aldehyde may damage brain cells, which may explain the seizures seen in some people.
Tünetek és jelek
Some people have seizures, which can start soon after birth or later in childhood, and some have intellectual disability. Behavioural or psychiatric differences have also been reported.
Mit változtat a diagnózis
Seizures may respond to vitamin B6 (pyridoxine), which may need to be given lifelong, and care is guided by a metabolic specialist. Genetic counselling is offered to families.
Vizsgált gének
Más néven
1 alpha pyrroline-5-carboxylate dehydrogenase deficiency; 1-pyrroline-5-carboxylate dehydrogenase activity disease; ALDH4A1 hyperprolinemia; delta-1-pyrroline-5-carboxylate dehydrogenase deficiency; delta1-pyrroline-5-carboxylate dehydrogenase deficiency; disorder of 1-pyrroline-5-carboxylate dehydrogenase activity; HPII; hyperprolinemia caused by mutation in ALDH4A1; hyperprolinemia, type II; HYRPRO2; type 2 hyperprolinemia
