Glutaric acidemia type II. Phenotypic findings and ultrastructural studies of brain and kidney.
In a patient with nonketotic hypoglycemia, hyperammonemia, and a urinary organic acid pattern characteristic of glutaric acidemia type II, dysmorphic facial features and kidneys with multiple cortical cysts were the characteristic phenotypic findings. Electron microscopy revealed characteristic cytoplasmic, homogeneous, moderately electron-dense bodies with a limiting membrane. This specific lesion was noted in both central nervous system and renal tissues.
D000138:Acidosis / Q000097:blood* / Q000473:pathology / Q000503:physiopathology; D000596:Amino Acids / Q000652:urine; D000641:Ammonia / Q000097:blood*; D001921:Brain / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000473:pathology / Q000503:physiopathology; D007678:Kidney Glomerulus / Q000648:ultrastructure*; D008854:Microscopy, Electron; D010641:Phenotype
D000596:Amino Acids; D000641:Ammonia