Question: What are the symptoms of Methylmalonic acidemia with homocystinuria, type cblJ ?
Answer: What are the signs and symptoms of Methylmalonic acidemia with homocystinuria, type cblJ? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylmalonic acidemia with homocystinuria, type cblJ. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atria septal defect 5% Cerebral atrophy 5% Coarctation of aorta 5% Cryptorchidism 5% Decreased methionine synthase activity 5% Decreased methylcobalamin 5% Gastroesophageal reflux 5% Hypertelorism 5% Pulmonary hypertension 5% Wide intermamillary distance 5% Abnormal posturing - Anemia - Autosomal recessive inheritance - Congenital onset - Decreased adenosylcobalamin - Feeding difficulties - Growth delay - Homocystinuria - Hyperhomocystinemia - Inguinal hernia - Lethargy - Methylmalonic acidemia - Methylmalonic aciduria - Muscular hypotonia - Neutropenia - Tachypnea - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD