You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information.
What is A 6-month-baby presented with recurrent seizures and developmental delay. On examination there was alopecia and scaly skin rashes. Investigations revealed metabolic acidosis, elevated lactates & ketonuria. What could be the underlying enzyme deficiency? and explain in detail?
Skin rashes with presence of ketones and metabolic acidosis are all features of Multiple carboxylase deficiency. Phenylalanine hydroxylase deficiency- microcephaly, hypopigmentation, musty body odour Glucose 6 phosphatase deficiency- doll like facies