Medium chain acyl-CoA dehydrogenase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: MCADH DEFICIENCY
ACADM DEFICIENCY
ACADMD
MCADD
CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY
mcad deficiency
Number of Symptoms 25
OrphanetNr: 42
OMIM Id: 201450
ICD-10: E71.3
UMLs: C0220710
MeSH: C536038
MedDRA:
Snomed: 128596003

Prevalence, inheritance and age of onset:

Prevalence: 12 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Acyl-CoA dehydrogenase deficiency
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0008309) Medium chain dicarboxylic aciduria 1 / 7739
2
(HPO:0003108) Hyperglycinuria 11 / 7739
3
(HPO:0001254) Lethargy 104 / 7739
4
(HPO:0001263) Global developmental delay 853 / 7739
5
(HPO:0001250) Seizures 1245 / 7739
6
(HPO:0001259) Coma 65 / 7739
7
(HPO:0002240) Hepatomegaly 467 / 7739
8
(HPO:0002910) Elevated hepatic transaminases 158 / 7739
9
(HPO:0001397) Hepatic steatosis 75 / 7739
10
(HPO:0002013) Vomiting 191 / 7739
11
(HPO:0003234) Decreased plasma carnitine 9 / 7739
12
(HPO:0002181) Cerebral edema 19 / 7739
13
(HPO:0001942) Metabolic acidosis 81 / 7739
14
(HPO:0001943) Hypoglycemia 131 / 7739
15
(HPO:0010547) Muscle flaccidity 466 / 7739
16
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
17
(HPO:0001324) Muscle weakness 859 / 7739
18
(HPO:0001252) Muscular hypotonia 990 / 7739
19
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
(OMIM) Deficiency of medium-chain acyl-CoA dehydrogenase 1 / 7739
21
(OMIM) Mild metabolic acidosis 1 / 7739
22
(OMIM) Acylglycinuria 1 / 7739
23
(OMIM) Mildly elevated blood ammonia 1 / 7739
24
(OMIM) Developmental delay if undiagnosed or untreated 1 / 7739
25
(OMIM) Absent to trace urine and plasma ketones 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Inherited deficiency of medium-chain acyl-CoA dehydrogenase is characterized by intolerance to prolonged fasting, recurrent episodes of hypoglycemic coma with medium-chain dicarboxylic aciduria, impaired ketogenesis, and low plasma and tissue carnitine levels. The disorder may be severe, and even ...
Diagnosis OMIM Rinaldo et al. (1988) found that measurement of urinary hexanoylglycine and phenylpropionylglycine by a method of stable-isotope dilution is a fast and reliable method for diagnosis of MCAD deficiency. It can be applied to random urine specimens without ...
Clinical Description OMIM Gregersen et al. (1976) first described MCADH deficiency in a patient who presented with unexplained episodes of lethargy and unconsciousness and C6-C10 dicarboxylic aciduria. Naylor et al. (1978) studied 2 early-adolescent sisters who suffered from intermittent hypoglycemia, lethargy, ...
Genotype-Phenotype Correlations OMIM Gregersen et al. (2001) reviewed the understanding of genotype-phenotype relationships in VLCAD, MCAD, and SCAD. They discussed both the structural implications of mutation type and the modulating effect of the mitochondrial protein quality control systems, composed of molecular ...
Molecular genetics OMIM In 9 patients with MCAD deficiency, Matsubara et al. (1990) found a 985A-G transition which resulted in a lys304-to-glu substitution (K304E; 607008.0001) in the mature protein. These patients were unrelated, suggesting a high incidence of this abnormality among ...
Population genetics OMIM Pollitt and Leonard (1998) reported the findings of a prospective clinical study of MCAD deficiency in the UK. Between 1994 and 1996 there were 62 reported cases in 54 families, giving a minimum incidence of 4.5 in 100,000. ...