A baby presents with refusal to feed, skin lesions, seizures, ketosis organic acids in urine with normal ammonia; likely diagnosis is:
Baby in the above mentioned case scenario is showing signs and symptoms of multiple carboxylase deficiency such as dermatitis severe metabolic acidosis, organic acid excretion. Ref: Essentials of Pediatrics By Nelson, 16th Edition, Pages 356 ; The Embryo: Scientific Discovery and Medical Ethics By Shraga Blazer, Page 246 ; NORD Guide to Rare Disorders: National Organization for Rare Disorders, Page 483
Proprionic aciduria
Multiple carboxylase deficiency
Maple syrup urine disease
Urea cycle enzyme deficiency