Stable pigmentary retinopathy in a child with 3-hydroxyacyl-CoA dehydrogenase deficiency [3]

Eye

Volumn 14, Issue 4, 2000, Pages 659-661

  Puri, P ^a   Chan, J ^a  

^a ROYAL HALLAMSHIRE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; CARNITINE; HEXANOIC ACID DERIVATIVE;

CASE REPORT; CHILD; DIET SUPPLEMENTATION; DIET THERAPY; DISEASE COURSE; ELECTROPHYSIOLOGY; ELECTRORETINOGRAM; ENZYME DEFICIENCY; EVOKED VISUAL RESPONSE; FOLLOW UP; HUMAN; LETTER; MALE; OPHTHALMOSCOPY; PIGMENT EPITHELIUM; RETINOPATHY; VISUAL ACUITY;

EID: 0033839655     PISSN: 0950222X     EISSN: None     Source Type: Journal    
DOI: 10.1038/eye.2000.161     Document Type: Letter

References (9)

1. Peripheral sensory-motor polyneuropathy, pigmentary retinopathy and fatal cardiomyopathy in long chain 3-hydroxy-acyl-CoA dehydrogenase deficiency
2. Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency: High frequency of the G1528C mutation with no apparent correlation with clinical phenotype
3. Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxycarboxylic aciduria: A new defect in fatty acid oxidation?
4. Long chain 3-hydroxylacyl-coenzyme A dehydrogenase deficiency: Diagnosis, plasma carnitine fractions and management in a further patient
5. Mitochondrial fatty acid oxidation disorders
6. Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid beta oxidation
7. Long chain 3-hydroxy-acyl-CoA dehydrogenase deficiency with G1528C mutation: Clinical presentation of thirteen patients
8. Ophthalmic findings in long chain 3-hydroxy-acyl-CoA dehydrogenase deficiency caused by the G1528C mutation
9. Docosahexaenoic acid and retinal function in children with long chain 3-hydroxyacyl-CoA dehydrogenase deficiency