Barth syndrome

Barth syndrome

(barth), [MIM*302060]

an X-linked syndrome characterized by poor growth, neutropenia, cardiomyopathy, and excess excretion of 3-methylglutaconic acid in the urine; some patients also show skeletal muscle weakness.

Farlex Partner Medical Dictionary © Farlex 2012

Barth syndrome

A rarely reported but underdiagnosed X-linked disorder characterised by cardiomyopathy, neutropenia, muscle hypoplasia, weakness, exercise intolerance, growth delay, cardiolipin defects and 3-methylglutaconic aciduria.

Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

Barth syn·drome

(bahrt sin'drōm)

An X-linked syndrome characterized by poor growth, neutropenia, cardiomyopathy, and excess excretion of 3-methylglutaconic acid in the urine; some patients also show skeletal muscle weakness.

Medical Dictionary for the Health Professions and Nursing © Farlex 2012