Inborn amino acid metabolism disorder
Overview
Inborn amino acid metabolism disorder: A group of inherited disorders where the body is not able to metabolize amino acids consumed in the diet. Amino acids are a part of carbohydrates, fats and proteins and are metabolized in order to provide energy or to make other needed compounds. There are many steps involved in metabolism and the severity can be greatly variable depending on the exact nature of the disorder.
Symptoms
* Mental retardation * Seizures * Eczema * Behavioral problems * Sweat with maple syrup odor * Urine with maple syrup odor * Sleeping difficulty * Vomiting * Sleepiness * Coma * Muscle movement problems * Diarrhea * Tiredness * Enlarged liver * Enlarged spleen * Kidney failure * Retarded growth * Cataracts * Speech problems * Language problems * Hearing problems * Learning disability * High fat level in blood * High blood acidity * Aversion to certain foods * Developmental delay * Developmental degeneration * Poor infant feeding * Failure to thrive * Neurological abnormalities * Psychiatric abnormalities * Unusual facial appearance * Abnormal hair * Skin symptoms * Reduced muscle tone * Bone abnormalities * Apnea * Rapid heartbeat * Rapid breathing * Irritability * Involuntary movements * Altered level of consciousness * Lethargy * Jaundice * Liver dysfunction * Ataxia * Vision problems * Panic attacks * Exercise intolerance * Hallucinations * Anxiety * Muscle weakness
Treatment
The list of treatments mentioned in various sources for Inborn amino acid metabolism disorder includes the following list. Always seek professional medical advice about any treatment or change in treatment plans. * Often dietary changes and or supplements . * Digestive Health Specialists (Gastroenterology): o Gastroenterology o Pediatric Gastroenterology (Child Digestive Health)