The signs and symptoms of<unk>  typically appear within the first few months of life, but the age of onset varies. Affected infants often have immunodeficiency diseases, difficulty feeding, breathing problems, a skin rash, hair loss (alopecia), and a lack of energy (lethargy). Immediate treatment and lifelong management (using biotin supplements) may prevent many of these complications. If left untreated, the disorder can lead to delayed development, seizures, and coma. These medical problems may be life-threatening in some cases.
Holocarboxylase synthetase deficiency
Malonyl-CoA decarboxylase deficiency
Guanidinoacetate methyltransferase deficiency
Carbamoyl phosphate synthetase I deficiency
2,4 Dienoyl-CoA reductase deficiency
Pyruvate kinase deficiency
Ornithine translocase deficiency
Aminoacylase 1 deficiency