current
ACADS:c.625G>A (p.Gly209Ser) AND Deficiency of butyryl-CoA dehydrogenase
current
classified by single submitter
Pathogenic
germline
human
not provided
curation
Corydon et al. (2001) studied 10 patients with ethylmalonic aciduria and SCAD deficiency (201470) in fibroblasts and found a 625G-A change in the SCAD gene, resulting in a gly185-to-ser (G185S) substitution, in 9 of the patients, 5 of whom were homozygous for this variation (3 had additional mutations). One patient with dysmorphic features and developmental delay was heterozygous for this mutation and for 511C-T (606885.0006), both of which have been referred to as 'variations,' because 14% of the general population has been found to be either homozygous or double heterozygous for them. Expression studies in E. coli showed that the G185S SCAD protein has 86% of wildtype activity.
11134486
ACADS:c.625G>A (p.Gly209Ser)
0.196832231278
0.1763
missense
NM_000017.2:c.625G>A
NG_007991.1:g.17513G>A
NC_000012.11:g.121176083G>A
NP_000008.1:p.Gly209Ser
G185S
G209S
GLY185SER
12q24.31
acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACADS
Deficiency of butyryl-CoA dehydrogenase
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF
Short chain acyl CoA dehydrogenase deficiency
Lipid-storage myopathy secondary to short chain acyl CoA dehydrogenase deficiency
SCAD DEFICIENCY, MILD
ACADSD
SCAD
The clinical findings in those with confirmed short-chain acyl-coA dehydrogenase (SCAD) deficiency range from severe (dysmorphic facial features, feeding difficulties/failure to thrive, metabolic acidosis, ketotic hypoglycemia, lethargy, developmental delay, seizures, hypotonia, dystonia, and myopathy) to normal. As in other fatty acid oxidation disorders, characteristic biochemical findings of SCAD deficiency may be absent except during times of physiologic stress such as fasting and illness. In the largest series of affected individuals published to date, 20% had failure to thrive, feeding difficulties, and hypotonia; 22% had seizures, and 30% had hypotonia without seizures. In contrast, the majority of infants with SCAD deficiency have been detected by expanded newborn screening, and the great majority of these infants remain asymptomatic. Because most infants with SCAD deficiency identified through newborn screening programs have been well at the time of diagnosis and asymptomatic relatives who meet diagnostic criteria are reported, the relationship of clinical manifestations to SCAD deficiency has come into question.
Childhood
21938826
current
Pathogenic
germline
human
not provided
curation
Corydon et al. (2001) studied 10 patients with ethylmalonic aciduria and SCAD deficiency (201470) in fibroblasts and found a 625G-A change in the SCAD gene, resulting in a gly185-to-ser (G185S) substitution, in 9 of the patients, 5 of whom were homozygous for this variation (3 had additional mutations). One patient with dysmorphic features and developmental delay was heterozygous for this mutation and for 511C-T (606885.0006), both of which have been referred to as 'variations,' because 14% of the general population has been found to be either homozygous or double heterozygous for them. Expression studies in E. coli showed that the G185S SCAD protein has 86% of wildtype activity.
11134486
ACADS, GLY185SER
GLY185SER
ACADS
SCAD DEFICIENCY