Paediatric Metabolic Disorder

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?



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