current
ACADM:c.842G>C (p.Arg281Thr) AND Medium-chain acyl-coenzyme A dehydrogenase deficiency
current
classified by single submitter
Pathogenic
germline
human
not provided
curation
Albers et al. (2001) reported a G-to-C transversion at nucleotide 842, resulting in an arg256-to-thr substitution. This mutation was found in compound heterozygosity with the lys304-to-glu mutation (607008.0001) in 4 asymptomatic sibs ranging in age from 1 to 9 years. The proband was identified because of expanded newborn screening using tandem mass spectrometry. Albers et al. (2001) suggested that this mutation may have a mild or benign clinical phenotype and that it is important to screen older unscreened sibs of all infants diagnosed by expanded newborn screening.
11486912
ACADM:c.842G>C (p.Arg281Thr)
NM_000016.5:c.842G>C
NG_007045.1:g.30195G>C
NC_000001.10:g.76215237G>C
NM_000016.4:c.842G>C
NP_000007.1:p.Arg281Thr
R256T
R281T
ARG256THR
1p31.1
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY
Acyl-CoA dehydrogenase medium chain deficiency of
MCADD
Medium chain acyl CoA dehydrogenase deficiency
MCAD
ACADMD
Medium-chain acyl-coenzyme A dehydrogenase (MCAD) is one of the enzymes involved in mitochondrial fatty acid β-oxidation, which fuels hepatic ketogenesis, a major source of energy once hepatic glycogen stores become depleted during prolonged fasting and periods of higher energy demands. In a typical clinical scenario, a previously healthy child with MCAD deficiency presents with hypoketotic hypoglycemia, vomiting, and lethargy triggered by a common illness. Seizures may occur. Hepatomegaly and liver disease are often present during an acute episode, which can quickly progress to coma and death. Children are normal at birth and – if not identified through newborn screening – typically present between ages three and 24 months; later presentation, even into adulthood, is possible. The prognosis is excellent once the diagnosis is established and frequent feedings are instituted to avoid any prolonged period of fasting.
Autosomal recessive inheritance
Neonatal/infancy
20301597
current
Pathogenic
germline
human
not provided
curation
Albers et al. (2001) reported a G-to-C transversion at nucleotide 842, resulting in an arg256-to-thr substitution. This mutation was found in compound heterozygosity with the lys304-to-glu mutation (607008.0001) in 4 asymptomatic sibs ranging in age from 1 to 9 years. The proband was identified because of expanded newborn screening using tandem mass spectrometry. Albers et al. (2001) suggested that this mutation may have a mild or benign clinical phenotype and that it is important to screen older unscreened sibs of all infants diagnosed by expanded newborn screening.
11486912
ACADM, ARG256THR
ARG256THR
ACADM
MCAD DEFICIENCY