Autozomálně recesivní
Caused by loss-of-function changes in both copies of DNAJC19, which encodes a protein involved in importing proteins into mitochondria. Patients have been described in Canada, Finland and Turkey, among other families.
Příznaky a projevy
Dilated cardiomyopathy beginning in infancy or early childhood, and some people have a long QT interval with irregular heartbeats. Growth is slow before and after birth, leading to short stature, and raised 3-methylglutaconic acid is found in the urine. Coordination and balance problems (ataxia) usually begin by age 2, and many people have mild intellectual disability. Many boys have genital differences such as undescended testes. Other common features include small red blood cells (microcytic anaemia) and fatty build-up in the liver.
Co se diagnózou změní
Care centres on regular heart review and treatment of heart failure and irregular heartbeats. Growth, development and metabolic status are monitored, with supportive therapies as needed. Both parents of an affected child are usually carriers, so each further child has a 1 in 4 chance of being affected; genetic counselling and carrier testing of relatives are available.
Analyzované geny
Známé také jako
3 alpha methylglutaconic aciduria type V; 3 methylglutaconic aciduria type V; 3-methylglutaconic aciduria caused by mutation in DNAJC19; DCMA; DCMA syndrome; dilated cardiomyopathy with ataxia; DNAJC19 3-methylglutaconic aciduria; MGA 5; MGA V; MGA5; MGCA5
