ascorbic-acid and Acidosis--Lactic

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is the most common subtype of mitochondrial encephalopathy. In the past, it was believed that most hereditary white matter lesions were lysosome storage disorders or peroxisome diseases. However, in recent years, white matter lesions have been increasingly regarded as a common feature of patients with mitochondrial diseases. In addition to stroke-like lesions, about half of the patients with MELAS reported white matter lesions in the brain.. Herein, we provide a case of A 48-year-old female who presented with episodic loss of consciousness with twitching of extremities. Previous medical history revealed 10 years of history of epilepsy, 10 years of history of diabetes, a history of hearing loss, and unknown etiology. Ancillary findings included brain magnetic fluid-attenuated inversion recovery showed symmetrical lesions in the bilateral parietal lobe with high signal intensity at the edge, and high signal intensity in the bilateral occipital lobe, paraventricular white matter, corona radiata, and the center of semiovale.. Mitochondrial deoxyribonucleic acid gene sequencing returned A3243G point mutation and it supports the diagnosis of intracranial hypertension.. Considered the diagnosis of symptomatic epilepsy, the patient was treated with mechanical ventilation, midazolam, and levetiracetam, and the limb twitching symptoms were controlled. The patient was comatose, chronically bedridden, with gastrointestinal dysfunction, and was treated prophylactically with antibiotics against infection, parenteral nutrition, and other supportive measures. B vitamins, vitamin C, vitamin E, coenzyme Q10, and idebenone were given, and mechanical ventilation and midazolam were stopped after 8 days. He was discharged from the hospital on 30 days and continued symptomatic treatment with B-vitamins, vitamin C, vitamin E, coenzyme Q10, and idebenone, and antiepileptic treatment with levetiracetam, with outpatient follow-up.. No further seizures were recorded and the patient recovered well.. MELAS syndrome without stroke-like episodes of diffuse posterior cerebral white matter lesions is rare in clinical practice, and the possibility of MELAS syndrome should be considered in symmetric posterior cerebral white matter lesions.

Topics: Acidosis, Lactic; Ascorbic Acid; Female; Humans; Leukoencephalopathies; Levetiracetam; Male; MELAS Syndrome; Midazolam; Middle Aged; Stroke; Vitamin E; Vitamins

Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) are thought to be rarely accompanied by macroangiopathy. We reported a case of MELAS that presented right distal internal carotid arterial (ICA) stenosis and reviewed 12 similar previously reported cases involving intracranial large blood vessels.. A 38-year-old man suffered from recurrent stroke-like episodes (SE) such as alternating hemiparesis (right lesion 3 years ago and current left lesion), cortical blindness and seizure for 3 years, and was previously misdiagnosed as cerebral infarction. Magnetic Resonance Angiography (MRA) and Digital Subtraction Angiography (DSA) revealed right distal ICA stenosis and sparse cortex blood vessels, which were related to the previous SE.. He was diagnosed by genetic screening (a mitochondrial DNA A3243G point mutation) and presence of high lactic acidosis (4.03 mmol/L), which rose to 7.8 mmol/L after exercise.. The patient received Coenzyme Q10, vitamin C, L-arginine for 2 weeks and valproic acid sodium (400 mg bid) to prevent seizures till now.. He is currently less active and intelligent than his peers, with occasional seizures, and needs family care.. Till date, there are 12 reported cases of MELAS combined with major cerebral arteries abnormalities including stenosis, dissection, occlusion, reversible vasoconstriction, aneurysms, and atherosclerosis. Hence, macroangiopathy in MELAS is not very rare. There is correlation between the affected vessels and the lesions in some cases, but not in others, which may increase the misdiagnosis rate. Hence, mitochondrial diseases cannot be excluded due to concurrent macroangiopathic lesions.

Topics: Acidosis, Lactic; Adult; Arginine; Ascorbic Acid; Carotid Stenosis; Humans; Male; MELAS Syndrome; Mitochondrial Encephalomyopathies; Point Mutation; Ubiquinone; Valproic Acid

A 15-year-old girl presented after intentional ingestion of dapsone (7.2 g) and small quantities of azathioprine, methotrexate and prednisolone. The resulting methaemoglobinaemia and lactic acidosis persisted despite treatment with methylene blue, multiple-dose activated charcoal and ascorbic acid. Continuous veno-venous haemofiltration for 75 hours was used to treat the dapsone overdose. The patient's serum dapsone concentrations were measured during and after continuous veno-venous haemofiltration. The rate of elimination of dapsone was over three times higher during, compared to after, continuous veno-venous haemofiltration. Continuous renal replacement therapy successfully reduced toxic dapsone concentrations in this patient with a good outcome.

Topics: Acidosis, Lactic; Adolescent; Anti-Infective Agents; Antidotes; Antioxidants; Ascorbic Acid; Blood Gas Analysis; Charcoal; Dapsone; Drug Overdose; Female; Gastric Lavage; Hemofiltration; Humans; Methemoglobinemia; Renal Replacement Therapy; Respiration, Artificial

Topics: Acidosis, Lactic; Ascorbic Acid; Blood Pressure; Carnitine; Drug Therapy, Combination; Humans; Reproducibility of Results; Reverse Transcriptase Inhibitors; Survival Rate; Ubiquinone; Vitamin B Complex

A 7-year-old boy with deficient activity of methylmalonyl coenzyme A mutase (mut-methylmalonic acidemia) was seen in severe metabolic crisis. After hemodialysis and clearance of toxic metabolites, severe lactic acidosis persisted with multiorgan failure. Glutathione deficiency was noted and high-dose ascorbate therapy (120 mg/kg) commenced. Glutathione deficiency may contribute to the lactic acidosis observed during decompensation in patients with methylmalonic acidemia.

Topics: Acidosis, Lactic; Acute Disease; Amino Acid Metabolism, Inborn Errors; Ascorbic Acid; Child; Glutathione; Humans; Male; Methylmalonic Acid; Renal Dialysis

Topics: Acidosis, Lactic; Adolescent; Ascorbic Acid; Electron Transport; Energy Metabolism; Female; Humans; Mitochondria, Muscle; Muscular Diseases; Physical Exertion; Vitamin K