Format

Send to:

Choose Destination

Deficiency of malonyl-CoA decarboxylase

MedGen UID:
91001
Concept ID:
C0342793
Disease or Syndrome
Synonyms: Malonic acidemia; Malonic aciduria; Malonyl-CoA Decarboxylase Deficiency; MCD deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Deficiency of malonyl-CoA decarboxylase (124594007); Malonyl-CoA decarboxylase deficiency (124594007); Deficiency of malonyl-coenzyme A decarboxylase (124594007); Malonic aciduria (361203007)
 
Gene (location): MLYCD (16q23.3)
OMIM®: 248360
Orphanet: ORPHA943

Definition

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 (Sweetman and Williams, 2001). [from OMIM]

Additional description

From GHR
Malonyl-CoA decarboxylase deficiency is a condition that prevents the body from converting certain fats to energy. The signs and symptoms of this disorder typically appear in early childhood. Almost all affected children have delayed development. Additional signs and symptoms can include weak muscle tone (hypotonia), seizures, diarrhea, vomiting, and low blood sugar (hypoglycemia). A heart condition called cardiomyopathy, which weakens and enlarges the heart muscle, is another common feature of malonyl-CoA decarboxylase deficiency.  https://ghr.nlm.nih.gov/condition/malonyl-coa-decarboxylase-deficiency

Clinical features

Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Lactic acidosis
MedGen UID:
1717
Concept ID:
C0001125
Disease or Syndrome
Acidosis caused by accumulation of lactic acid more rapidly than it can be metabolized. It may occur spontaneously or in association with diseases such as DIABETES MELLITUS; LEUKEMIA; or LIVER FAILURE.
Hypertrophic cardiomyopathy
MedGen UID:
2881
Concept ID:
C0007194
Disease or Syndrome
A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Infrequent or difficult evacuation of FECES. These symptoms are associated with a variety of causes, including low DIETARY FIBER intake, emotional or nervous disturbances, systemic and structural disorders, drug-induced aggravation, and infections.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency of loose or watery bowel movements.
Hypoglycemia
MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
A decreased concentration of glucose in the blood.
Ketosis
MedGen UID:
7206
Concept ID:
C0022638
Disease or Syndrome
A condition characterized by an abnormally elevated concentration of KETONE BODIES in the blood (acetonemia) or urine (acetonuria). It is a sign of DIABETES COMPLICATION, starvation, alcoholism or a mitochondrial metabolic disturbance (e.g., MAPLE SYRUP URINE DISEASE).
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
A condition of decreased tone of the skeletal muscles and diminished resistance to passive stretching.
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Metabolic acidosis
MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
Acid accumulation or depletion of base in the body due to buildup of metabolic acids.
Macrogyria
MedGen UID:
120579
Concept ID:
C0266483
Congenital Abnormality
A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Chronic constipation
MedGen UID:
98325
Concept ID:
C0401149
Sign or Symptom
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Global developmental delay
MedGen UID:
892935
Concept ID:
C4020875
Pathologic Function
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeficiency of malonyl-CoA decarboxylase
Follow this link to review classifications for Deficiency of malonyl-CoA decarboxylase in Orphanet.

Recent clinical studies

Etiology

Malvagia S, Papi L, Morrone A, Donati MA, Ciani F, Pasquini E, la Marca G, Scholte HR, Genuardi M, Zammarchi E
Ann Hum Genet 2007 Nov;71(Pt 6):705-12. Epub 2007 May 29 doi: 10.1111/j.1469-1809.2007.00373.x. PMID: 17535268

Diagnosis

Malvagia S, Papi L, Morrone A, Donati MA, Ciani F, Pasquini E, la Marca G, Scholte HR, Genuardi M, Zammarchi E
Ann Hum Genet 2007 Nov;71(Pt 6):705-12. Epub 2007 May 29 doi: 10.1111/j.1469-1809.2007.00373.x. PMID: 17535268

Therapy

Haan EA, Scholem RD, Croll HB, Brown GK
Eur J Pediatr 1986 Apr;144(6):567-70. PMID: 3709568

Prognosis

Malvagia S, Papi L, Morrone A, Donati MA, Ciani F, Pasquini E, la Marca G, Scholte HR, Genuardi M, Zammarchi E
Ann Hum Genet 2007 Nov;71(Pt 6):705-12. Epub 2007 May 29 doi: 10.1111/j.1469-1809.2007.00373.x. PMID: 17535268

Clinical prediction guides

Gregg AR, Warman AW, Thorburn DR, O'Brien WE
J Inherit Metab Dis 1998 Jun;21(4):382-90. PMID: 9700595

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center