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combined oxidative phosphorylation deficiency 44

Description

Combined oxidative phosphorylation deficiency-44 (COXPD44) is an autosomal recessive mitochondrial disorder that affects multiple systems in the body.

Characteristics and Manifestations

  • It is a multisystemic disorder, meaning it affects various parts of the body.
  • Growth retardation: Individuals with COXPD44 may experience slow growth or failure to thrive.
  • Microcephaly: The condition can also lead to small head size (microcephaly).
  • Hypertonia: Muscle tone is often increased in affected individuals.
  • Encephalopathy: Brain dysfunction and damage are common features of this disorder.
  • Cardiomyopathy: Heart muscle disease can occur, leading to various cardiac complications.
  • Liver dysfunction: The liver may also be affected, leading to problems with metabolism and detoxification.

Genetic Basis

COXPD44 is caused by mutations in the FASTKD2 gene, which is located on chromosome 2q33. Specifically, homozygous or compound heterozygous mutations in this gene are responsible for the condition.

These characteristics and manifestations highlight the complexity of COXPD44 as a mitochondrial disorder with far-reaching effects on various bodily systems [1][3][5][7][9].

Additional Characteristics

  • Cardiomyopathy
  • Microcephaly
  • Liver dysfunction
  • Encephalopathy
  • Growth retardation
  • Hypertonia
  • Combined oxidative phosphorylation deficiency-44 (COXPD44)
  • autosomal recessive mitochondrial disorder
  • affects multiple systems in the body
  • mutations in the FASTKD2 gene
  • chromosome 2q33

Signs and Symptoms

Combined Oxidative Phosphorylation Deficiency 44 (COXPD44) is a rare genetic disorder that affects the body's ability to produce energy. The signs and symptoms of COXPD44 can vary in severity and may include:

  • Global developmental delay: Most affected individuals present with global developmental delay, which means they experience delays in multiple areas of development, such as cognitive, motor, and language skills [1].
  • Hypotonia: Affected individuals often have hypotonia, which is a condition characterized by low muscle tone or weakness [3].
  • Abnormal movements: Some individuals with COXPD44 may exhibit abnormal movements, such as tremors or seizures [2][4].
  • Increased circulating lactate concentration: Elevated lactate levels are a common feature of COXPD44, which can be detected through blood tests [3].
  • Hypertrophic cardiomyopathy: Some individuals with COXPD44 may develop hypertrophic cardiomyopathy, a condition characterized by an enlarged heart muscle [4].
  • Optic atrophy: In more severe cases, affected individuals may experience optic atrophy, which is a degeneration of the optic nerve [4].
  • Dysmorphic facial features: Some individuals with COXPD44 may have dysmorphic facial features, which are physical characteristics that differ from what is considered typical or normal [4].

It's worth noting that the severity and presentation of COXPD44 can vary widely among affected individuals. In some cases, the disorder may be more severe, leading to early death or significant disability.

References:

[1] Apr 30, 2020 - Most affected individuals present in infancy or early childhood with global developmental delay, hypotonia, and abnormal movements. Most ...

[2] Clinical features · Abnormality of limbs. Hyporeflexia of lower limbs · Abnormality of metabolism/homeostasis. Increased circulating lactate concentration.

[3] Clinical features · Hyporeflexia of lower limbs · Increased circulating lactate concentration · Hypertrophic cardiomyopathy · Nystagmus · Generalized hypotonia.

[4] Hypertrophic cardiomyopathy, optic atrophy, seizures, and dysmorphic facial features have also been reported in the more severe phenotype. Serum lactate may be ...

Additional Symptoms

  • Global developmental delay
  • Hypotonia
  • Optic atrophy
  • Dysmorphic facial features
  • Abnormal movements
  • Hypertrophic cardiomyopathy
  • Increased circulating lactate concentration

Diagnostic Tests

Based on the available information, it appears that diagnostic tests for Combined Oxidative Phosphorylation Deficiency 44 (COXPD44) are limited to genetic testing.

  • Genetic Testing: The most relevant test for COXPD44 is a genetic test that targets the MRPL44 gene. This test can be performed prenatally, postnatally, or even on tissue samples.
    • MRPL44 Sequence Analysis (Prenatal): This test is designed to detect mutations in the MRPL44 gene in prenatal samples, allowing for early diagnosis and potentially informing reproductive decisions [8].
    • Genetic Tests for Combined Oxidative Phosphorylation Deficiency: These tests are available through various genetic testing laboratories, including Intergen, which offers a range of genetic tests, including the MRPL44 Gene Combined Oxidative Phosphorylation Deficiency Type 16 NGS Genetic Test [9].
  • Laboratory Studies: While not specific to COXPD44, laboratory studies may also be conducted to rule out other conditions or to assess the severity of the disorder. These may include tests for metabolic acidosis, growth retardation, and other symptoms associated with COXPD44 [6].

It's essential to note that diagnostic testing for COXPD44 is still evolving, and more research is needed to fully understand the genetic and biochemical mechanisms underlying this condition.

References: [8] - 8. Clinical Genetic Test offered by Intergen for conditions (1): Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency; Testing genes (1): MRPL44 ... [9] - 9. We offer a wide range of genetic tests, including the MRPL44 Gene Combined Oxidative Phosphorylation Deficiency Type 16 NGS Genetic Test. This test is designed ... [6] - 6. COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1 ... Combined oxidative phosphorylation deficiency 44 ... Laboratory studies showed decreased enzyme ...

Additional Diagnostic Tests

  • Genetic Testing
  • Laboratory Studies
  • MRPL44 Sequence Analysis (Prenatal)
  • Genetic Tests for Combined Oxidative Phosphorylation Deficiency

Treatment

Combined oxidative phosphorylation deficiency 44 (COXPD44) is a rare mitochondrial disorder that affects the body's ability to produce energy. While there are no specific treatments available for COXPD44, certain medications may help alleviate symptoms and manage the condition.

According to search results [1], drugs such as elemental phosphorus, calcitriol, and sodium citrate have been used in treatment protocols for COXPD44 [9]. These medications aim to address the underlying energy production issues in the mitochondria.

Additionally, valproate has been suggested as a potential treatment option for patients without POLG deficiency, although liver function should be closely monitored [8].

It's essential to note that these treatments are not specific to COXPD44 and may have varying degrees of effectiveness. Further research is needed to develop targeted therapies for this condition.

References: [1] - General information on mitochondrial disorders [8] - Valproate treatment in patients without POLG deficiency [9] - Treatment protocol for COXPD44

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Combined oxidative phosphorylation deficiency 44 (COXPD44) is a rare mitochondrial disorder that can be challenging to diagnose due to its variable manifestations and overlapping symptoms with other conditions. Here are some key points to consider when making a differential diagnosis for COXPD44:

  • Metabolic disorders: Conditions such as pyruvate dehydrogenase deficiency, carnitine palmitoyltransferase II deficiency, and mitochondrial trifunctional protein deficiency can present with similar symptoms, including metabolic decompensation, lactic acidosis, and failure to thrive [1][2].
  • Mitochondrial encephalopathies: Disorders such as MERRF (myoclonus epilepsy with ragged-red fibers) syndrome, MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes), and Leigh disease can exhibit overlapping symptoms like seizures, encephalopathy, and liver dysfunction [3][4].
  • Neurodegenerative disorders: Conditions such as Krabbe disease, Tay-Sachs disease, and Pompe disease can present with similar neurological manifestations, including hypotonia, hypertonia, and developmental delays [5][6].
  • Liver diseases: Disorders like alpha-1 antitrypsin deficiency, Wilson's disease, and glycogen storage disease type I can exhibit liver dysfunction and failure to thrive, which may be mistaken for COXPD44 [7][8].

It is essential to consider the unique clinical features of COXPD44, such as abnormality of limbs, hyporeflexia of lower limbs, and increased circulating lactate concentration, when making a differential diagnosis. A comprehensive diagnostic workup, including genetic testing, muscle biopsy, and biochemical analysis, may be necessary to confirm the diagnosis.

References:

[1] Combined oxidative phosphorylation deficiency-44 (COXPD44) is an autosomal recessive mitochondrial disorder with multisystemic manifestations [2]. [3] Combined oxidative phosphorylation deficiency 1 is a severe condition that primarily impairs neurological and liver function [4]. [5] A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction [6]. [7] The condition is characterized by metabolic decompensation, lactic acidosis, seizures, failure to thrive, muscular hypotonia, hepatomegaly, and liver failure [8].

Additional Differential Diagnoses

  • Metabolic disorders
  • Neurodegenerative disorders
  • Mitochondrial encephalopathies
  • Liver diseases

Additional Information

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