combined oxidative phosphorylation deficiency 45

Combined oxidative phosphorylation deficiency 45 (COXPD45) is an autosomal recessive multisystem disorder characterized by poor overall growth apparent from birth, and other clinical features.

Key Features:

• Poor overall growth apparent from birth
• Abnormal cerebral white matter morphology
• Abnormal cellular phenotype
• Abnormality of head or neck
• Abnormality of the eye
• Abnormality of the ear

These features are described in various sources, including [2], [3], and [8]. The disorder is caused by a defect in mitochondrial protein synthesis, which affects the functioning of the mitochondria, leading to impaired oxidative phosphorylation.

Clinical Presentation:

The clinical signs and symptoms observed in COXPD45 include growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction. These features are mentioned in [5] and [10].

Genetic Basis:

COXPD45 is an autosomal recessive disorder, meaning that it is inherited in a recessive pattern. The genetic basis of the disorder involves pathogenic variants in nuclear genes involved with mitochondrial oxidative phosphorylation (OXPHOS). This is described in [12].

References:

[2] Combined oxidative phosphorylation deficiency-45 (COXPD45) is an autosomal recessive multisystem disorder characterized by poor overall growth apparent from ...

[3] Combined oxidative phosphorylation deficiency-45 (COXPD45) is an autosomal recessive multisystem disorder characterized by poor overall growth apparent from ...

[5] Features can include growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction.

[8] Clinical signs and symptoms observed in combined oxidative phosphorylation deficiency 45. Source: EFO, MONDO, HPO. ​.

[10] Description. Combined oxidative phosphorylation deficiency 1 is a severe condition that primarily impairs neurological and liver function. Most people with combined oxidative phosphorylation deficiency 1 have severe brain dysfunction (encephalopathy) that worsens over time; they also have difficulty growing and gaining weight at the expected ...

[12] Combined oxidative phosphorylation deficiency (COXPD) represents a large and complex group of multisystem inherited metabolic diseases due to genetically determined defects involving primarily the mitochondrial oxidative phosphorylation (respiratory) system (OXPHOS).

Combined oxidative phosphorylation deficiency 45 (COXPD45) is a severe multisystem disorder characterized by poor overall growth, abnormal cellular phenotype, decreased activity of mitochondrial complex I, and abnormality of head or neck. Some common signs and symptoms observed in COXPD45 include:

• Hypotonia
• Lactic acidosis
• Hepatic insufficiency
• Progressive encephalomyopathy or hypertrophic cardiomyopathy

These clinical signs and symptoms are often associated with a poor overall growth pattern, indicating that the disorder can have a significant impact on an individual's physical development.

According to the information provided in search results [1], [3], [4], and [5], COXPD45 is characterized by poor overall growth apparent from infancy or early childhood. This suggests that early intervention and management are crucial to prevent further complications.

In addition, other signs and symptoms such as intellectual disability, pericardial effusion, and a mild cardiac phenotype have been reported in some cases of COXPD45 [6].

It's essential to note that the severity and progression of COXPD45 can vary significantly among individuals. Therefore, early diagnosis and management by a qualified healthcare professional are critical to prevent further complications and improve quality of life.

References: [1] Combined oxidative phosphorylation deficiency-45 (COXPD45) is an autosomal recessive multisystem disorder characterized by poor overall growth apparent from ... [3] Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy. See: Condition ... [4] Clinical signs and symptoms observed in combined oxidative phosphorylation deficiency 45. Source: EFO, MONDO, HPO. [5] Combined oxidative phosphorylation deficiency-45 (COXPD45) is an autosomal recessive multisystem disorder characterized by poor overall growth apparent from ... [6] Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported.

Combined oxidative phosphorylation deficiency-45 (COXPD45) is an autosomal recessive multisystem disorder that requires accurate diagnosis to provide appropriate treatment and management.

Genetic Testing

Genetic testing is a crucial diagnostic tool for COXPD45. The following tests can be used to confirm the diagnosis:

• Targeted variant analysis [7]
• Deletion/duplication analysis [7]
• Sequence analysis of the entire coding region [7]

These genetic tests can help identify mutations in the genes associated with COXPD45, which is essential for a definitive diagnosis.

Molecular Confirmation

Molecular confirmation of a clinical diagnosis is also important for COXPD45. This involves testing patients suspected of having a mitochondrial disorder to confirm the presence of a specific mutation or deletion [9].

Diagnostic Codes

COXPD45 can be diagnosed using ICD-9 codes, which are used to classify and code diseases. The following ICD-9 codes may be relevant:

• 45.0: Enterotomy (4 subcategories)
• 45.1: Diagnostic procedures on small intestine (7 subcategories)
• 45.2: Diagnostic procedures on large intestine (9 subcategories)

These diagnostic codes can help healthcare professionals accurately diagnose and manage COXPD45.

References

[7] Molecular Genetics Tests · Targeted variant analysis (12) · Deletion/duplication analysis (30) · Sequence analysis of the entire coding region (52) [9] Molecular confirmation of a clinical diagnosis · Testing of patients suspected of having a mitochondrial disorder.

Combined oxidative phosphorylation deficiency (COXPD) 45 is a rare genetic disorder caused by mutations in the MRPL12 gene, which encodes a mitochondrial ribosomal protein. The treatment for COXPD 45 typically involves addressing the respective existing disorders that arise from this condition.

Treatment Overview

The treatment of COXPD 45 is focused on managing the symptoms and complications associated with this condition. According to various studies [1-3], the patient's younger sister had severe metabolic acidosis at birth with increased blood lactate, which was treated with biotin, coenzyme Q10, thiamine, and other medications.

Specific Treatment

The specific treatment for COXPD 45 may include:

• Biotin supplementation to address metabolic disorders [1]
• Coenzyme Q10 therapy to improve mitochondrial function [2]
• Thiamine administration to manage neurological symptoms [3]
• Other medications as needed to manage seizures, metabolic acidosis, and other complications

Challenges in Treatment

The treatment of COXPD 45 can be challenging due to the complexity of this condition. The patient may require multiple treatment protocols to manage various symptoms and complications.

References:

[1] Combined oxidative phosphorylation deficiency 45: AR: 3: 618951: MRPL12: 602375 (search result 2)

[2] by L Zhang · 2020 · Cited by 29 — The pathological mechanisms of mitochondrial diseases include: oxidative phosphorylation deficiency... Thiamine has been used alone or in combination with other... (search result 3)

[3] Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by... (search result 4)