Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency.
BACKGROUND
Long chain 3-hydroxyacyl-CoA-dehydrogenase (LCHAD) is one of the enzymes involved in the breakdown of fatty acids. A deficiency of this enzyme is associated with life threatening episodes of hypoketotic hypoglycaemia during prolonged fasting. Neuropathy and retinopigmentary changes were mentioned in only a few cases.


METHODS
The case histories of two girls, aged 8 and 15 years, with LCHAD deficiency are reported.


RESULTS
Both children with LCHAD deficiency exhibited extensive macular pigmentary depositions and a 'salt and pepper' scattering of pigment in their retinas. The patients have decreasing visual acuity.


CONCLUSIONS
The early recognition of LCHAD deficiency can increase the life expectancy in these patients through avoiding catabolism and through appropriate diets. Patients tend to be free of symptoms between attacks, however. Testing for the disorder, therefore, should be included in the diagnostic process for children with retinal dystrophy, in particular when other clinical symptoms are known to have occurred.
Schrijver-Wieling
I
I
Department of Ophthalmology, University Hospital Utrecht, The Netherlands.
van Rens
G H
GH
Wittebol-Post
D
D
Smeitink
J A
JA
de Jager
J P
JP
de Klerk
H B
HB
van Lith
G H
GH
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D000293:Adolescent; D002648:Child; D004596:Electroretinography; D005260:Female; D006801:Humans; D008266:Macula Lutea; D009755:Night Blindness / Q000209:etiology; D012164:Retinal Diseases / Q000175:diagnosis / Q000209:etiology*; D012607:Scotoma / Q000209:etiology; D014792:Visual Acuity
D015094:3-Hydroxyacyl CoA Dehydrogenases