Glutamine deficiency- congenital
Overview
Glutamine deficiency, congenital: A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in infant death within weeks of birth.
Symptoms
The list of signs and symptoms mentioned in various sources for Glutamine deficiency, congenital includes the 16 symptoms listed below: * Severe brain malformations * Multiorgan failure * Neonatal death * Short limbs * Elbow flexion contractures * Knee flexion contractures * Camptodactyly * Ulnar deviation of hands * Flat nose root * Short nose * Antevereted nostrils * Thin lips * Low set ears * Reduced muscle tone * Severe diarrhea * Skin disorder
Diagnosis
Home medical testing related to Glutamine deficiency, congenital: * Cold & Flu: Home Testing: o Home Fever Tests o Home Ear Infection Tests o Home Flu Tests
Treatment
* Child Health Specialists (Pediatrics): o Pediatrics (Child Health Specialist) o Adolescent Medicine (Teen Health) o Neonatal-Perinatal Medicine o Pediatric / Adolescent Psychiatry o Pediatric Allergy and Immunology o Pediatric Cardiology o Pediatric Critical Care Medicine o Pediatric Dentistry o Pediatric Dermatology o Pediatric Developmental Behavioral Health o Pediatric Emergency Medicine o Pediatric Endocrinology o Pediatric Gastroenterology o Pediatric Hematology / Oncology o Pediatric Infectious Disease Medicine o Pediatric Medical Toxicology o Pediatric Nephrology o Pediatric Neurology o Pediatric Neurosurgery