A friend has a two month old baby, born in Texas, USA. At birth he
was a beautiful normal, healthy baby boy. At one month of age he
began having seizures. Now, at two months of age the seizures are
controlled with medication, but the baby is mostly comatose, having to
be fed through a tube.
He has been investigated by paediatric neurologists who can find
nothing wrong with him neurologically.
He has also been fully investigated by paediatric endocrinologists.
They suspect a metabolic disorder. He has been tested for all known
metabolic deficiencies in new born babies. They say he has a
deficiency of an unknown enzyme. Unless the enzyme is identified the
baby will not recover.
Can anyone help with any information for this distraught family?