combined oxidative phosphorylation deficiency 19

Combined oxidative phosphorylation deficiency 19 (COXPD19) is a rare mitochondrial disorder characterized by severe symptoms in the newborn period, including respiratory distress, hypotonia, and severe lactic acidosis [5]. This condition is caused by homozygous mutations in the LYRM4 gene, which encodes a protein involved in mitochondrial function [15].

The symptoms of COXPD19 are similar to those of other combined oxidative phosphorylation deficiencies, including growth retardation, microcephaly, hypertonicity, encephalopathy, cardiomyopathy, and liver dysfunction [9]. However, the specific genetic cause of COXPD19 is distinct from other forms of this disorder.

COXPD19 is an autosomal recessive disorder, meaning that it is inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the mutated LYRM4 gene (one from each parent) to develop the condition [15].

Early diagnosis and treatment are crucial for managing COXPD19 and other combined oxidative phosphorylation deficiencies. However, the prognosis for individuals with these conditions is often poor, and early death can occur due to the severity of the symptoms [9].

Combined oxidative phosphorylation deficiency 19 (COXPD19) is a severe condition that primarily impairs neurological and liver function. The signs and symptoms of COXPD19 can vary, but they typically include:

• Abnormal cellular phenotype
• Mitochondrial swelling
• Abnormality of metabolism/homeostasis
• Abnormality of the digestive system

In addition to these general symptoms, specific manifestations reported in individuals with COXPD19 include:

• Poor feeding and failure to thrive
• Microcephaly (small head size)
• Hypotonia (low muscle tone)
• Anemia and thrombocytopenia (low red and platelet blood cell counts)

Other signs and symptoms that have been reported in some cases of COXPD19 include:

• Bulbar paresis with facial weakness
• Difficulty chewing and swallowing (dysphagia)
• Mild dysarthria (speech difficulties)
• Ataxia (loss of coordination and balance)
• Global muscle atrophy

It's worth noting that the signs and symptoms of COXPD19 can vary depending on the individual and may not be present in all cases. [1][2][3][4][5]

References: [1] Combined oxidative phosphorylation deficiency 1 is a severe condition that primarily impairs neurological and liver function. [2] Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia. [3] A number sign (#) is used with this entry because of evidence that combined oxidative phosphorylation deficiency-19 (COXPD19) is caused by homozygous mutations in the LYRM4 gene. [4] Sep 1, 2017 — In some cases, affected individuals have abnormal muscle tone (increased or decreased), developmental delay, seizures, loss of sensation in the limbs. [5] Combined oxidative phosphorylation deficiency 3 is a rare disorder with clinical signs such as hypotonia, lactic acidosis, and hepatic insufficiency.

Based on the provided context, here are some diagnostic tests associated with Combined Oxidative Phosphorylation Deficiency:

• Clinical tests: There are 9 clinical tests available in the database for this condition. These tests can help diagnose and monitor the progression of combined oxidative phosphorylation deficiency.
• Molecular Genetics Tests: Genetic testing is a crucial aspect of diagnosing combined oxidative phosphorylation deficiency. This includes testing for mutations in genes related to mitochondrial function, such as GFM1 (resulting in COXPD-1) or FARS2 (resulting in COXPD-14).
• Muscle biopsy: A muscle biopsy can show decreased activity of mitochondrial complexes I and IV, which is a characteristic feature of combined oxidative phosphorylation deficiency.
• Lactic acidosis test: Lactic acidosis is present in all patients with combined oxidative phosphorylation deficiency. This test can help confirm the diagnosis.

It's essential to note that proper early diagnosis is necessary as some genetic subtypes lead to severe and life-threatening complications (14). A comprehensive diagnostic approach, including clinical evaluation, molecular genetics testing, and other relevant tests, is crucial for accurate diagnosis and management of combined oxidative phosphorylation deficiency.

References: [3] Clinical features · Abnormal cellular phenotype. Mitochondrial swelling · Abnormality of metabolism/homeostasis · Abnormality of the digestive system · Abnormality ... [5] Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal ... [14] 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). ... proper early diagnosis is necessary as some genetic subtypes lead to ...

Combined Oxidative Phosphorylation Deficiency 19 (COXPD19) is a rare mitochondrial disorder characterized by respiratory distress, hypotonia, and severe lactic acidosis in the newborn period [3]. While there is limited information available on the specific treatment of COXPD19, some studies suggest that certain medications may be effective in managing its symptoms.

According to search results, treatment with elemental phosphorus, calcitriol, and sodium citrate has been mentioned as a potential approach for COXPD19 [6]. However, it is essential to note that this information is limited, and more research is needed to confirm the efficacy of these treatments.

Additionally, some studies have explored the use of dichloroacetate (DCA) or ketogenic diet in treating mitochondrial disorders, including COXPD19 [7][8]. While these approaches may show promise, further investigation is required to determine their effectiveness in managing COXPD19 specifically.

It's also worth noting that COXPD19 is a rare and severe disorder, and treatment options may be limited. A multidisciplinary approach involving medical professionals with expertise in mitochondrial disorders may be necessary to develop an effective treatment plan for affected individuals.

References:

[3] Definition of COXPD19 [6] Treatment with elemental phosphorus, calcitriol, and sodium citrate [7] Use of dichloroacetate (DCA) or ketogenic diet in treating mitochondrial disorders [8] Favorable outcome with treatment using DCA or ketogenic diet

The differential diagnosis for Combined Oxidative Phosphorylation Deficiency (COXPD) 19 involves a range of conditions that can present with similar symptoms and clinical features.

Key Conditions to Consider:

• Long-chain fatty acid beta-oxidation disorders: These are a group of inherited metabolic diseases caused by defects in the mitochondrial respiratory chain, which can lead to similar neurological and systemic symptoms as COXPD 19.
• Mitochondrial encephalomyopathies: This is a broader category of conditions that affect the brain and other organs due to mitochondrial dysfunction, including COXPD 19.
• **Hereditary spastic paraplegia (HSP