Medium chain acyl-CoA dehydrogenase deficiency in a premature infant

• প্রধান লেখক: Steven F. Dobrowolski (লেখক), Lina Ghaloul-Gonzalez (লেখক), Jerry Vockley (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: MDPI AG, 2017-11-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is identified by newborn screening (NBS). The natural history of MCADD includes metabolic decompensation with hypoglycemia, hyperammonemia, seizures, coma, and death. NBS enables expectant management thus severe symptoms are rare in managed pati...