current
ACADS:c.136C>T (p.Arg46Trp) AND Deficiency of butyryl-CoA dehydrogenase
current
classified by single submitter
Pathogenic
germline
human
not provided
curation
In a patient with SCAD deficiency (201470), Naito et al. (1989, 1990) found evidence of compound heterozygosity. One chromosome carried a C-to-T transition in nucleotide 136 which altered arg46 to trp. See 606885.0002 for the mutation in the other allele. The cell line studied was from the patient reported by Naito et al. (1989).
2808706
Naito, E., Indo, Y., Tanaka, K. Short chain acyl-CoA dehydrogenase (SCAD) deficiency: demonstration of molecular heterogeneity and identification of point mutations. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A208, 1989.
ACADS:c.136C>T (p.Arg46Trp)
NM_000017.2:c.136C>T
NG_007991.1:g.6348C>T
NC_000012.11:g.121164918C>T
NP_000008.1:p.Arg46Trp
missense
R46W
ARG46TRP
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
In a patient with SCAD deficiency (201470), Naito et al. (1989, 1990) found evidence of compound heterozygosity. One chromosome carried a C-to-T transition in nucleotide 136 which altered arg46 to trp. See 606885.0002 for the mutation in the other allele. The cell line studied was from the patient reported by Naito et al. (1989).
2808706
Naito, E., Indo, Y., Tanaka, K. Short chain acyl-CoA dehydrogenase (SCAD) deficiency: demonstration of molecular heterogeneity and identification of point mutations. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A208, 1989.
ACADS, ARG46TRP
ARG46TRP
ACADS
SCAD DEFICIENCY