combined oxidative phosphorylation deficiency 33

Combined Oxidative Phosphorylation Deficiency 33 (COXPD33) is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism [4][5]. It is caused by homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13 [2].

The phenotype of COXPD33 is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy [9]. A common feature of this disorder is decreased activity of mitochondrial complex I [8].

COXPD33 can also be associated with mitochondrial cardiomyopathy, with variable onset including intrauterine or neonatal forms, phenotypes, and severity [13]. The biallelic mutation of C1QBP caused a combined oxidative phosphorylation deficiency 33 (COXPD 33) in two brothers from a Chinese family, demonstrating an autosomal recessive inherited mode of inheritance [15].

In summary, COXPD33 is a rare genetic disorder that affects mitochondrial energy metabolism, leading to a wide range of clinical features and variable severity.

References: [1] Not applicable [2] Context 2 [3] Not applicable [4] Context 4 [5] Context 5 [6] Context 6 [7] Not applicable [8] Context 8 [9] Context 9 [10] Not applicable [11] Not applicable [12] Not applicable [13] Context 13 [14] Not applicable [15] Context 15

Combined oxidative phosphorylation deficiency 33 (COXPD33) is a rare disorder that can manifest with a range of clinical signs and symptoms.

Common Signs and Symptoms:

• Muscle weakness [13]
• Ptosis (drooping eyelids) [14]
• Peripheral neuropathy (nerve damage) [14]
• Hepatomegaly (enlarged liver) [13]
• Fatigue [14]
• Cardiomyopathy (heart muscle disease) [14]
• Myopathy (muscle disease) [14]
• Encephalopathy (brain disease) [14]
• Elevated serum creatine phosphokinase (a marker of muscle damage) [13]

Other Possible Symptoms:

• Sucking weakness
• Severe lactic acidosis (elevated lactate levels in the blood)
• Rhabdomyolysis (muscle breakdown) with elevated creatine kinase values
• Constipation

It's worth noting that the phenotype of COXPD33 can be highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy [4][6]. The severity and progression of symptoms can also vary significantly between individuals.

References: [13] Combined oxidative phosphorylation deficiency 33 : AR: 3 : 617713 : C1QBP : 601269 [14] Top most frequent phenotypes and symptoms related to Combined Oxidative Phosphorylation Deficiency 33

Diagnostic Tests for Combined Oxidative Phosphorylation Deficiency 33

Combined oxidative phosphorylation deficiency 33 (COXPD33) is a rare genetic disorder that affects the body's ability to produce energy. Diagnostic tests are essential to confirm the presence of this condition and rule out other potential causes of symptoms.

Genetic Testing

• Carrier screening: Genetic testing can be performed on expecting parents or related family members to identify carriers of the C1QBP gene mutation (601269) [12].
• Prenatal diagnosis: Molecular testing of the fetus during pregnancy may help in diagnosing COXPD33, if available [13].

Other Diagnostic Tests

• Blood tests: Blood samples can be analyzed for specific biomarkers or enzyme levels to support a diagnosis of COXPD33.
• Imaging studies: Imaging techniques such as MRI or CT scans may be used to rule out other conditions that could cause similar symptoms.

Genetic Information

The C1QBP gene mutation (601269) on chromosome 17p13 is associated with combined oxidative phosphorylation deficiency-33 (COXPD33) [15]. This genetic information can help in confirming the diagnosis and providing a basis for further testing.

Please note that these diagnostic tests should only be performed under the guidance of a qualified healthcare professional. If you have any specific questions or concerns, feel free to ask!

Combined oxidative phosphorylation deficiency (COXPD) 33, also known as COXPD33, is a rare mitochondrial disease caused by mutations in the C1QBP gene. When considering differential diagnosis for COXPD33, several conditions should be taken into account.

• FARS2-related infantile-onset epileptic mitochondrial encephalopathy: This condition, also referred to as combined oxidative phosphorylation deficiency 14 (COXPD14), is caused by mutations in the FARS2 gene. It presents with early-onset encephalopathy, liver failure, and hypotonia, among other symptoms [10].
• Long-chain fatty acid beta-oxidation disorders: These conditions involve defects in the mitochondrial respiratory chain and can present with similar symptoms to COXPD33, such as developmental delay, encephalopathy, and liver dysfunction [11].
• Hereditary spastic paraplegia (HSP): While not directly related to COXPD33, HSP is a group of genetic disorders that affect the nervous system. Some individuals with later-onset forms of HSP may also experience symptoms similar to those seen in COXPD33 [10].
• Mitochondrial metabolism diseases: These conditions involve defects in mitochondrial energy production and can present with a range of symptoms, including growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy, and liver dysfunction [8].

It's essential to note that differential diagnosis for COXPD33 should be made by a qualified medical professional, taking into account the individual's specific clinical presentation and family history.

References:

[8] - Abnormal cellular phenotype · Abnormality of metabolism/homeostasis · Abnormality of prenatal development or birth · Abnormality of the cardiovascular system. [10] - FARS2-related infantile-onset epileptic mitochondrial encephalopathy may also be referred to as combined oxidative phosphorylation deficiency 14 or phenylalanyl aminoacyl tRNA synthetase ... (see Hereditary Spastic Paraplegia Overview) should be included in the differential diagnosis. Because some of the individuals with the later-onset ... [11] - 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). ... The main differential diagnosis includes long-chain fatty acid beta ...