Malonic aciduria

General Information (adopted from Orphanet):

Synonyms, Signs: Malonyl-CoA decarboxylase deficiency
Number of Symptoms 28
OrphanetNr: 943
OMIM Id: 248360
ICD-10: E72.8
UMLs: C0342793
MeSH: C535702
MedDRA:
Snomed: 124594007
361203007

Prevalence, inheritance and age of onset:

Prevalence: 34 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Metabolic disease due to other fatty acid oxidation disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0001992) Organic aciduria Very frequent [Orphanet] 28 / 7739
2
(HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
3
(HPO:0001263) Global developmental delay 853 / 7739
4
(HPO:0002014) Diarrhea 225 / 7739
5
(HPO:0002019) Constipation Frequent [Orphanet] 194 / 7739
6
(HPO:0002013) Vomiting 191 / 7739
7
(HPO:0012450) Chronic constipation 10 / 7739
8
(HPO:0002027) Abdominal pain 184 / 7739
9
(HPO:0004322) Short stature 1232 / 7739
10
(HPO:0001626) Abnormality of the cardiovascular system Frequent [Orphanet] 73 / 7739
11
(HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
12
(HPO:0001943) Hypoglycemia Frequent [Orphanet] 131 / 7739
13
(HPO:0001946) Ketosis 17 / 7739
14
(HPO:0001942) Metabolic acidosis 81 / 7739
15
(HPO:0003128) Lactic acidosis 116 / 7739
16
(HPO:0010547) Muscle flaccidity 466 / 7739
17
(HPO:0001324) Muscle weakness 859 / 7739
18
(HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
19
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
20
(OMIM) Frontotemporal atrophy 3 / 7739
21
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
(OMIM) Mitochondrial malonyl-CoA decarboxylase activity in fibroblasts is very low (as low as 4%) 1 / 7739
23
(OMIM) Nodular heterotopia 4 / 7739
24
(OMIM) White matter changes on brain imaging (less common) 1 / 7739
25
(HPO:0001302) Pachygyria rare [HPO:skoehler] 60 / 7739
26
(HPO:0007227) Macrogyria 9 / 7739
27
(OMIM) Abnormal urinary compounds 1 / 7739
28
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Malonyl-CoA decarboxylase deficiency is an uncommon inherited metabolic disease. The characteristic phenotype is variable, but may include developmental delay in early childhood, seizures, hypotonia, diarrhea, vomiting, metabolic acidosis, hypoglycemia, ketosis, abnormal urinary compounds, lactic acidemia, and hypertrophic cardiomyopathy ...
Clinical Description OMIM Brown et al. (1984) described deficiency of malonyl-CoA decarboxylase in a 5-year-old boy who had been studied for short stature, abdominal pain, chronic constipation, episodic vomiting, and metabolic acidosis. Abnormal amounts of malonic, methylmalonic, and succinic acids were ...
Molecular genetics OMIM Gao et al. (1999) identified a 4-bp deletion at the 3-prime end of exon 2 of the MLYCD gene (606761.0003) in homozygosity in a patient with malonyl-CoA decarboxylase deficiency.

By RT-PCR analysis of fibroblast RNA from ...