ORPHA:943

Malonic aciduria

Synonyms: Deficiency of malonyl-CoA decarboxylase · MLYCD deficiency · Malonic acidemia · Malonyl-CoA decarboxylase deficiency

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Malonic aciduria	Deficiency of malonyl-CoA decarboxylase · MLYCD deficiency · Malonic acidemia · Malonyl-CoA decarboxylase deficiency
fr	Acidurie malonique	Déficit en MCD · Déficit en malonyl-CoA décarboxylase
de	Malonazidurie	MLYCD-Defizienz · Malonyl-CoA-Decarboxylase- Mangel
es	Aciduria malónica	Acidemia malónica · Deficiencia de MLYCD · Deficiencia de malonil-CoA descarboxilasa
it	Aciduria malonica	Acidemia malonica · Deficit di MLYCD · Deficit di malonil-CoA decarbossilasi
nl	Malonacidurie	Deficiëntie van malonyl-CoA-decarboxylase · Malonacidemie · Malonzuuracidurie
pt	Acidúria malónica	Acidemia malónica · Deficiência MLYCD · Deficiência de malonil-CoA descarboxilase
pl	Acyduria malonowa	Kwasica malonowa
cs	Malonová acidurie	Deficit malonyl-CoA dekarboxylázy
uk	Малонова ацидурія	Дефіцит малоніл-КоА декарбоксилази · Малонова ацидемія · Дефіцит малоніл-КоА-декарбоксилази · Дефіцит MLYCD
zh	丙二酸尿症	丙二酰-CoA脱羧酶缺乏
tr	Malonik asidüri	Malonyl-CoA dekarboksilaz eksikliği

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	248360	E		validated
ICD-10	E72.8	NTBT	attributed	validated
ICD-11	5C50.E1	NTBT	index	validated
MONDO	0009556	E		validated
MeSH	C535702	E		validated
UMLS	C0342793	E		validated
GARD	3371	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

ORPHA:309133Metabolic disease due to other fatty acid oxidation disorder
rare inborn errors of metabolism; rare genetic diseases
ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MLYCD	Disease-causing germline mutation(s) in	Assessed	HGNC:7150	ENSG00000103150	606761	16q23.3	malonyl-CoA decarboxylase	24613099[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		34 cases	Worldwide	Case(s)	Validated	23177061[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

19 annotations · validated 2025-05-14

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000750	Delayed speech and language development
HP:0001332	Dystonia
HP:0034657	Elevated urine malonic acid level
HP:0012120	Methylmalonic aciduria
Frequent (79-30%)
HP:0001638	Cardiomyopathy
HP:0001508	Failure to thrive
HP:0011968	Feeding difficulties
HP:0001263	Global developmental delay
HP:0001510	Growth delay
HP:0001943	Hypoglycemia
HP:0001942	Metabolic acidosis
HP:0000252	Microcephaly
HP:6000355	Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts
HP:0001250	Seizure
Occasional (29-5%)
HP:0002014	Diarrhea
HP:0001252	Hypotonia
HP:0001946	Ketosis
HP:0001254	Lethargy
HP:0002013	Vomiting

Annotation source: 39069445[PMID]_39069445[PMID]