Abstract：
:Inherited errors of metabolism are rare genetic disorders characterized by diverse clinical and biochemical phenotypes. The complexity of signs and symptoms often presents a challenge for both clinicians and laboratory specialists. In many cases, prevention of permanent neurological symptoms or death in patients presenting these disorders is dependent on early diagnosis and introduction of appropriate therapy. For professionals it is indispensable to be familiar with the major clinical signs of inborn errors of metabolism and with the necessary and available laboratory studies to achieve an early diagnosis. The review tries to give a way of approach, diagnostic algorithm of laboratory measurements for the correct diagnosis in inherited errors of metabolism. The combination of biochemical and clinical signs, results of special metabolic investigations represent a portentous challenge in general practice. For the correct diagnosis of an inherited error of metabolism, the teamwork between clinicians and laboratory specialists is indispensable. Orv Hetil. 2017; 158(48): 1903-1907.
journal_name
Orv Hetiljournal_title
Orvosi hetilapauthors
Szabó E,Balogh L,Szabó A,Szatmári Idoi
10.1556/650.2017.30899subject
Has Abstractpub_date
2017-12-01 00:00:00pages
1903-1907issue
48eissn
0030-6002issn
1788-6120journal_volume
158pub_type
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