Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C₆–C₁₄ hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

Ocular characteristics in 10 children with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: a cross‐sectional study with long‐term follow‐up

“…2002). Ocular complications beginning with retinal pigmentations and progressing to impaired retinal function with pathological electroretinography (ERG) have been described in case reports and in small case series since the late 1980s (Poll‐The et al. 1988; Przyrembel et al.…”

“…Long-term complications include ocular changes (Tyni et al 1998a), peripheral neuropathy and mental retardation (Wanders et al 1990;Gillingham et al 1999;den Boer et al 2002). Ocular complications beginning with retinal pigmentations and progressing to impaired retinal function with pathological electroretinography (ERG) have been described in case reports and in small case series since the late 1980s (Poll-The et al 1988;Przyrembel et al 1991;Bertini et al 1992;Pons et al 1996) followed by more detailed descriptions of the chorioretinal atrophy (Schrijver-Wieling et al 1997) and an association to cataract (Uusimaa et al 1997). Tyni et al (1998a) reported the ocular changes in four long-term survivors and 15 infants, all dead before 14 months of age.…”

Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase in leukocytes and chorionic villus fibroblasts: Potential for pre‐ and postnatal diagnosis

“…So far, 11 patients have been described in the literature in which deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase has been proved enzymatically (Wanders et al 1989;Hale et al 1990;Rocchiccioli et al 1990;Wanders et al 1990;Carpenter et al 1991;Duran et al 1991;Jackson et al 1991;Dionisi-Vici et al 1991;Przyrembel et al 1991). Recent studies have shown that in the patients described by Riudor et al (1986) and Poll-The et al (1988) long-chain 3-hydroxyacyl-CoA dehydrogenase is also deficient (Hale and Wanders, unpublished results).…”

Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: Different clinical expression in three unrelated patients

“…Abnormal neurological development, transient hepatomegaly and cardiomegaly were noted. A characteristic finding in hydroxydicarboxylic aciduria is chronic progressive liver disease with fatty infiltration and cirrhosis, and in some patients pigmentary retinal changes were also observed (Riudor et al, 1986;Poll-The et at., 1988).…”

“…In recent years an increasing number of patients with hydroxydicarboxylic aciduria have been described (Riudor et aI., 1986, Pollitt et al, 1987Kelley and Morton, 1988;Poll-The et al, 1988;Pollitt, 1990). In general patients present in the first 9 months of life with symptoms resembling Reye syndrome.…”