Multiple Acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers - II. Morphology and pathogenesis

European Journal of Pediatrics

Volumn 139, Issue 1, 1982, Pages 60-65

  Bohm N ^a   Uy, J ^a   Kiessling M ^a   Lehnert, W ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Cerebrocortical dysplasia; Congenital polycystic kidneys; Fatty liver; Fetopathy; Glutaric aciduria type II; Multiple acyl CoA dehydrogenation deficiency

Indexed keywords

ACYL COENZYME A DEHYDROGENASE;

AUTOPSY; BILE DUCT; BILE DUCT HYPOPLASIA; BRAIN CORTEX; BRAIN MALFORMATION; CASE REPORT; CENTRAL NERVOUS SYSTEM; CHOLESTASIS; CONGENITAL DISORDER; CONGENITAL MALFORMATION; DIAGNOSIS; ENZYME DEFICIENCY; ETIOLOGY; FETUS; GLUTARIC ACIDURIA; HEREDITY; HISTOLOGY; KIDNEY; KIDNEY POLYCYSTIC DISEASE; LIVER; NEWBORN; PATHOGENESIS; POTTER SYNDROME; SIBLING;

ABNORMALITIES, MULTIPLE; CASE REPORT; CEREBRAL CORTEX; GLUTARATES; HUMAN; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; POLYCYSTIC KIDNEY DISEASES;

EID: 0019953516     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/BF00442082     Document Type: Article

References (7)

1. Studies on the effect of saturated and unsaturated short-chain monocarboxylic acids on the energy metabolism of rat liver mitochondria
2. Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: Another possible case of glutaric aciduria type II
3. Oxidative phosphorylation accompanying oxidation of short-chain fatty acids by rat liver mitochondria
4. Considerations of the pathogenesis of neonatal hepatitis, biliary atresia and choledochal cyst. The concept of infantile obstructive cholangiopathy
5. Pathogenesis of polycystic kidneys
6. Glutaric aciduria type II: Report on a previously undescribed metabolic disorder
7. Glutaric aciduria type II