Hello  Demian Arturo Herrera Morban

please check pdfs and link

http://emedicine.medscape.com/article/804757-clinical

symptoms and signs of many diseases seen in neonatal and early infantil period is not specific. Therefore, firstly one should be suspected, and secondly history is important.     

Demian,

Nirmala's literature to check is quite well, but if you are asking for medical history in inborn errors of metabolism, as far as I know there are no pull down menues to make the diagnose available, taking into account that most of the diseases are autosomal recessive inherited.

Nevertheless, as a pediatrican who deals with rare diseases and inborn errors of metabolism, i believe in a good questionair regarding a pedigree analyses in whom data at least two generations should be downstream requested. are there any early death, any family diseases are known. Many of the inborn errors of metabolism  are not new onset mutations.

Cheers

Thanks all for the information.

Hello Demian   I worked in big center for metabolic and endocrine disorders in kuwait  

first suspect , 2ndly if family history of still birth or intra uterine fetal death or previous affected offsprings you must do  check list of investigations   and follow 

 you must contract also genetic ceners , and neurology units 

 ther was one book is called metabolic vademacum  nice and supporting.

Thanks for the Information Hassan