Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy.
A male infant with glutaric aciduria II secondary to electron transfer flavoprotein: ubiquinone oxidoreductase deficiency is compared to previously reported cases of glutaric aciduria II. A common pattern of anomalies in patients with malformations (8/16) includes macrocephaly, large anterior fontanelle, high forehead, flat nasal bridge, telecanthus, and malformed ears. Abnormalities such as hypotonia, cerebral gliosis, heterotopias, hepatomegaly, hepatic periportal necrosis, polycystic kidneys, and genital defects in glutaric aciduria II are reminiscent of those in Zellweger syndrome, whereas elevations of glutaric, ethylmalonic, adipic, and isovaleric acids are quite distinctive. A unique ultrastructural alteration of the glomerular basement membrane was observed in the proposita. This manifestation may represent an early stage in renal cyst formation and provide a diagnostic criterion for glutaric aciduria II when enzyme studies are unavailable.
Wilson
G N
GN
Department of Anatomical Pathology, Saint Christopher's Hospital for Children, Temple University School of Medicine.
de Chadarévian
J P
JP
Kaplan
P
P
Loehr
J P
JP
Frerman
F E
FE
Goodman
S I
SI
D000015:Abnormalities, Multiple / Q000378:metabolism / Q000473:pathology; D001344:Autopsy; D001485:Basement Membrane / Q000473:pathology / Q000648:ultrastructure; D044927:Electron-Transferring Flavoproteins; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D005260:Female; D015433:Glomerulonephritis, Membranous / Q000209:etiology / Q000235:genetics / Q000378:metabolism / Q000473:pathology* / Q000652:urine; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007231:Infant, Newborn; D007506:Iron-Sulfur Proteins; D007678:Kidney Glomerulus / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000652:urine*; D009097:Multienzyme Complexes / Q000172:deficiency*; D000587:Oxidoreductases Acting on CH-NH Group Donors; D010641:Phenotype
D044927:Electron-Transferring Flavoproteins; D005977:Glutarates; D007506:Iron-Sulfur Proteins; D009097:Multienzyme Complexes; D044943:Fatty Acid Desaturases; D000587:Oxidoreductases Acting on CH-NH Group Donors; C023120:electron-transferring-flavoprotein dehydrogenase; C035736:glutaric acid