3-METHYLGLUTACONIC ACIDURIA, TYPE II

Subtype of 3-METHYLGLUTACONIC ACIDURIA

Cardiovascular
Congestive heart failure
Dilated cardiomyopathy 
Endocardial fibroelastosis
Hypertrophic cardiomyopathy
Noncompaction of left ventricle 
Ultrastructural abnormalities in mitochondria on electron microscopy
Craniofacial
Broad forehead
Full cheeks
Large ears
Prominent chin
Round face
Feet
Talipes equinovarus
General
Intolerance to exercise
Growth
Failure to thrive
Growth retardation
Hematologic
Neutropenia
Immunologic System
Recurrent infections
Metabolic Abnormality
Elevated urinary 2-ethylhydracrylate
Elevated urinary 3-methylglutaconate
Elevated urinary 3-methylglutarate 
Lactic acidosis
Organic aciduria
Muscle
Skeletal myopathy
Neurologic Abnormality
Delayed motor milestones
Proximal weakness
Ocular
Deep set eyes
Oral
Nasal quality to speech
Performance
Abnormal gait 
Fatigue
Skeletal
Myopathic facies