Özet:

Objective: Adult primary hereditary metabolic diseases are genetic diseases that are important with the potential to be treated. With this study, the compilation of the diagnoses and clinical characteristics of the facts diagnosed with KMH in our clinic is aimed at raising awareness of this. Tools and methods: The files of the facts diagnosed with KMH in adult age have been reviewed backward. The findings: Age varies from 19 to 88 years, 39 adult cases from 14 families have been diagnosed with 9 specific KMH Disease (%59), Citrine deficiency (%10), Multiple acid-KoA dehydrogenase deficiency (%8), Alkaptonuria (%8), Adrenolocodystrophy (%5), and one occurrence with acute intermitent porphyris, brain creatine transport defect, mitochondrial neurogastrointestinal encephalomyelopathy, Ornitine transcarbamilase deficiency. 80% of cases were diagnosed in family scans, 18% in clinical findings, 2% in selective scans. 77% of the immediate diagnosis are symptomatic and 23% are asymptomatic. The clinics to which symptomatic symptoms are first applied are neurology (%30), nefrology (%14), breast diseases (%14), ortopedics (%10), intramuscular (%7) and cardiology (%7). In symptomatic cases, KMH was diagnosed with 60% biochemical tests, for 93% there was a disease-specific treatment and for 67% it was given. The result: A fairly new but rapidly growing medical field of adult hereditary metabolism diseases requires the development of specialized doctors in our country.

Anahtar Kelimeler: