Srry, name of disease must be: short chain acyl-CoA dehydrogenase deficiency polymorphism...
Hi!
I am a mother of 3 girls, now age 18, 13 and 11, all diagnosed with short chain acryl-coa dehydrogenase deficiency polymorphism.
Youngest has mild symptoms, only mild hypothonia.
The others have more severe symptomes as faillure to thrive, epilepsy, mental retardation, and in infancy poor feeding with slimy stinking faeces.
When they are about to have seizures, my husband knows before they start: he smells them! A sour odor !!
Can anyone explain me how this is possible?
Is it related to their metabolic disease or just to a special kind of seizure.
They have NO hypoglycaemia, and no brain abnormalitys were shown on MRI.
In my own childhood, i was also diagnoses with epilepsiy,
Hypoglycaemia and grow retardation. Seizures startend at onset 5 years and disappeared when i was 8 years old. But i am just a heterozygote carrier, also is my husband.
Sorry for my poor english writing skills, i'm from the Netherlands.
Just hoping for an answer,
Greetzzz to all!
Hi,
Has he undergo CT scan and MRI of brain? Brain tumor can be a cause of olfactory hallucination. Apart from that i think you can also get an ENT examination done to rule out nasal polyps, rhinitis and deviated nasal septum. Epilepsy can also cause this symptom. I suggest you to get CT scan of brain and see an ENT specialist.Good Luck!