In this task, you will be given a sentence. You need to reconize the name of the disorder or disease. Disease is a disorder of structure or function in a human, animal, or plant, especially one that produces specific symptoms or that affects a specific location and is not simply a direct result of physical injury. Although there might be several correct answers, you need to write one of them.

 While a few cases of isolated ACTH deficiency have been reported ( OMIM 201400 ) , an inherited POMC defect has not been described so far .
ACTH deficiency

 Patients were selected because they were heterozygous or homozygous for C2 deficiency .
C2 deficiency

 Recently , the R496H mutation of ARSA was proposed to be a cause of MLD ( Draghia et al . , 1997 ) .

MLD