Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

The Journal of Pediatrics

Volumn 118, Issue 5, 1991, Pages 744-746

  Vici, Carlo Dionisi ^a,b,c,d   Burlina, Alberto B ^a,b,c,d   Bertini, Enrico ^a,b,c,d   Bachmann, Claude ^a,b,c,d   Mazziotta, Mercedes R M ^a,b,c,d   Zacchello, F ^a,b,c,d   Sabetta, Gaetano ^a,b,c,d   Hale, Daniel E ^a,b,c,d  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE;

ARTICLE; CASE REPORT; ENZYME DEFICIENCY; HUMAN; INBORN ERROR OF METABOLISM; MALE; MUSCLE HYPOTONIA; MYOGLOBINURIA; NEUROPATHY; NEWBORN; PRIORITY JOURNAL;

3-HYDROXYACYL COA DEHYDROGENASES; BIOPSY; CARNITINE; CASE REPORT; CHILD; COMBINED MODALITY THERAPY; DIETARY FATS; HUMAN; MALE; MITOCHONDRIA, MUSCLE; MYOGLOBINURIA; NERVOUS SYSTEM DISEASES; NEUROLOGIC EXAMINATION; RECURRENCE; STARCH;

EID: 0025828169     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(05)80039-3     Document Type: Article

References (7)

1. Abnormalities of fatty acid oxidation
2. The role of urinary organic acids analysis in the detection and management of inherited metabolic diseases
3. The l-3-hydroxyacyl-CoA dehydrogenase deficiency
4. Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
5. Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium-chain triglyceride diet
6. Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia
7. Long-chain acyl-coenzyme A dehydrogenase deficiency: biochemical studies in fibroblasts from three patients