The<unk>  is named for the presence of sweet-smelling<unk> , similar to<unk><unk> , when the person goes into metabolic crisis. The smell is also detected in ear wax of an affected individual during metabolic crisis. In populations to whom<unk><unk>  is unfamiliar, the aroma can be likened to fenugreek, and fenugreek ingestion may impart the aroma to<unk> . Symptoms of<unk>  varies between patients and is greatly related to the amount of residual enzyme activity. Classic<unk>  Infants with classic<unk>  will display subtle symptoms within the first 24–48 hours. Subtle symptoms include poor feeding, either bottle or breast, lethargy, and irritability. The infant will then experience increased focal neurologic signs. These neurologic signs include athetoid, hypertonia, spasticity, and opisthotonus that lead to convulsions and coma. If<unk>  is left untreated, central neurologic function and respiratory failure will occur and lead to death. Although<unk>  can be stabilized, there are still threats of metabolic decompensation and loss of bone mass that can lead to osteoporosis, pancreatitis, and intracranial hypertension. Additional signs and symptoms that can be associated with classic<unk>  include intellectual limitation and behavioral issues. Intermediate<unk>  Intermediate<unk>  has greater levels of residual enzyme activity than classic<unk> . The majority of children with intermediate<unk>  are diagnosed between the ages of 5 months and 7 years. Symptoms associated with classic<unk>  also appear in intermediate<unk> . Intermittent<unk>  Contrary to classic and intermediate<unk> , intermittent<unk>  individuals will have normal growth and intellectual development. Symptoms of lethargy and characterized odor of<unk><unk>  will occur when the individual experiences stress, does not eat, or develops an infection. Metabolic crisis leading to seizures, coma, and brain damage is still a possibility. Thiamine-response<unk>  Symptoms associated with thiamine-response<unk>  are similar to intermediate<unk> . Newborns rarely present with symptoms. Later onset The symptoms of<unk>  may also present later depending on the severity of the<unk> . Untreated in older individuals, and during times of metabolic crisis, symptoms of the condition include uncharacteristically inappropriate, extreme or erratic behaviour and moods, hallucinations, lack of appetite, weight loss, anemia, diarrhea, vomiting, dehydration, lethargy, oscillating hypertonia and hypotonia, ataxia, seizures, hypoglycaemia, ketoacidosis, opisthotonus, pancreatitis, rapid neurological decline, and coma. Death from cerebral edema will likely occur if there is no treatment. Additionally,<unk>  patients experience an abnormal course of<unk> s in simple infections that can lead to permanent damage.
Maple syrup urine disease
Urocanic aciduria
Alpha-aminoadipic and alpha-ketoadipic aciduria
Hawkinsinuria
3-Methylglutaconic aciduria
Homocystinuria
Alkaptonuria
2-Hydroxyglutaric aciduria