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Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3(MC4DN9)

MedGen UID:
903495
Concept ID:
C4225154
Disease or Syndrome
Synonym: MC4DN9
 
Gene (location): COA5 (2q11.2)
 
Monarch Initiative: MONDO:0014667
OMIM®: 616500

Definition

Mitochondrial complex IV deficiency nuclear type 9 (MC4DN9) is an autosomal recessive multisystem metabolic disorder characterized by neonatal hypertrophic cardiomyopathy resulting in death in early infancy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by Huigsloot et al., 2011). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. [from OMIM]

Additional description

From MedlinePlus Genetics
Many people with cytochrome c oxidase deficiency have a specific group of features known as Leigh syndrome. The signs and symptoms of Leigh syndrome include loss of mental function, movement problems, hypertrophic cardiomyopathy, eating difficulties, and brain abnormalities. Cytochrome c oxidase deficiency is one of the many causes of Leigh syndrome.

The severity of cytochrome c oxidase deficiency varies widely among affected individuals, even among those in the same family. People who are mildly affected tend to have muscle weakness (myopathy) and poor muscle tone (hypotonia) with no other related health problems. More severely affected people have problems in multiple body systems, often including severe brain dysfunction (encephalomyopathy). Approximately one-quarter of individuals with cytochrome c oxidase deficiency have a type of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Another possible feature of this condition is an enlarged liver (hepatomegaly), which may lead to liver failure. Most individuals with cytochrome c oxidase deficiency have a buildup of a chemical called lactic acid in the body (lactic acidosis), which can cause nausea and an irregular heart rate, and can be life-threatening.

Many individuals with cytochrome c oxidase deficiency do not survive past childhood, although some individuals with mild signs and symptoms live into adolescence or adulthood.

Cytochrome c oxidase deficiency is a genetic condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. Signs and symptoms of cytochrome c oxidase deficiency usually begin before age 2 but can appear later in mildly affected individuals.  https://medlineplus.gov/genetics/condition/cytochrome-c-oxidase-deficiency

Clinical features

From HPO
Hypertrophic cardiomyopathy
MedGen UID:
2881
Concept ID:
C0007194
Disease or Syndrome
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Decreased activity of mitochondrial complex IV
MedGen UID:
866520
Concept ID:
C4020800
Finding
A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.
Cardiomyocyte mitochondrial proliferation
MedGen UID:
1615713
Concept ID:
C4531203
Finding
An abnormal increase in the number of mitochondria per cardiac myocyte.

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