Homogentisate Oxidase Deficiency
Homogentisic acid oxidase deficiency, known as alkaptonuria, is a rare inherited metabolic disorder in which the body does not fully break down a compound derived from certain amino acids, which builds up and deposits in tissues.
Characteristic signs: one of the typical features is that urine darkens when left exposed to air; over the years, color changes in cartilage and joint discomfort may appear.
Common causes: it is caused by a genetic alteration that affects a metabolic enzyme and is usually passed from parents to children.
Which specialist treats it? The pediatrician usually identifies the first signs and guides the workup together with specialists in metabolic diseases. If you notice striking darkening of the urine or early joint discomfort, it is worth seeing a doctor to clarify the cause.
Specialties that treat homogentisate oxidase deficiency
Treatment by city
Doctors specialized in homogentisate oxidase deficiency
Dr. Edgar Bustos Córdova
Dr. Alberto Fregoso Ojeda
Dr. Rodolfo Rivas Ruiz
Dr. Sergio Miguel Gomez Dorantes
Dr. Mercado Filomena Vizcaino
Dr. Olga Eugenia Martínez Garza
Dr. Jose Luis Balanzar Serna
Dr. Alfonso Corona Tellez
Dr. Rodriguez Francisco Herrera
Dr. Román Pineda Abarca
Dr. Escandon Hector Calles
Dr. Roberto Moreno Paez
Dr. Francisco Alvarado Alemán
Dr. Jesús Isidro Pinzón Sánchez
Dr. Elizabeth Solano Pareja
Dr. Victor Tapia Alfaro
Dr. Julio Fraire Calleros
Dr. Gabriela Juárez Domínguez
Dr. Maria Eugenia Chang Gonzalez
Dr. Edgar Sanchez-Uribe
Frequently asked questions
What is homogentisate oxidase deficiency?
Homogentisic acid oxidase deficiency, known as alkaptonuria, is a rare inherited metabolic disorder in which the body does not fully break down a compound derived from certain amino acids, which builds up and deposits in tissues.
Which doctor treats homogentisate oxidase deficiency?
Homogentisate Oxidase Deficiency is usually treated by specialists in pediatrician.