Recent Advances in the Understanding of Skeletal Muscle Fatigue. Medscape, from Current Opinion in Rheumatology [On-line information]. Available online at . Nissl, J. (2004 October 28). Lactic Acid. WebMD Health Guide A-Z [On-line information]. [labtestsonline.it]

Case 2 (personal communication) 20 An 11 year old girl with MELAS had persistent lactic acidosis (venous blood lactate 5 mmol/l), growth retardation, muscular fatigue, and frequent bouts of acid-base decompensation requiring hospitalisation. [adc.bmj.com]

Liver Hypoglycemia (low blood sugar), liver failure Eyes Visual loss and blindness Ears Hearing loss and deafness Pancreas Diabetes and exocrine pancreatic failure (inability to make digestive enzymes) Systemic Failure to gain weight, short stature, fatigue [tsbvi.edu]

Symptoms: Seizures, hypotonia, fatigue, nystagmus, poor reflexes, eating & swallowing difficulties, breathing problems, poor motor function, ataxia. [umdf.org]

Symptoms in the neonatal period include hypotonia, lethargy, vomiting, and tachypnea. As the disease progresses, it causes developmental delay, cognitive disabilities, abnormal development of the face and head, and organ failure. [en.wikipedia.org]

In some children (especially those with a severe enzyme defect), symptoms of congenital lactic acidosis develop within the first hours or days of life and may include loss of muscle tone (hypotonia), lethargy, vomiting and abnormally rapid breathing (tachypnea [rarediseases.org]

Severe hypotension, oliguria or aneuria, deteriorating mental status, and tachypnea always are present when the cause of lactic acidosis is tissue hypoxemia. [odlarmed.com]

The development of lactic acidosis depends on the magnitude of hyperlactatemia, the buffering capacity of the body, and the coexistence of other conditions that produce tachypnea and alkalosis (eg, liver disease, sepsis). [emedicine.medscape.com]

[…] protein-rich food) Hyperammonemia-hyperornithinemia-homocitrullinuria (HHH) : caused by mutations in the SLC25A15 gene, autosomal recessive inheritance, it is characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea [bredagenetics.com]

Other Possible Causes of these Symptoms * Abdominal pain * Ataxia * Convulsions * Lethargy * Loss of scalp hair * Mental retardation * Metabolic acidosis * Muscle twitching * Muscle weakness * Rapid breathing * Reduced muscle tone * Vomiting Prevention [checkorphan.org]

Haug Browse recently published Learning/CME Learning/CME View all learning/CME CME Partial Oral versus Intravenous Antibiotic Treatment of Endocarditis Case 4-2019: An 18-Year-Old Man with Abdominal Pain and Hematochezia Bridging the Gap Challenge Yourself [nejm.org]

Lactic acidosis is characterised by low pH in body tissues and blood and build up of lactate, which causes a host of symptoms including tachycardia, nausea and abdominal pain. [medicalxpress.com]

Added to this are gastroparesis, constipation, vomiting, and intermittent diarrhea with abdominal pain. Many individuals develop diverticulosis and diverticulitis that may lead to intestinal perforations. [disorders.eyes.arizona.edu]

The diagnosis was made at the age of 50 in a woman who presented a life-long history of aversion to sugary foods (nausea, vomiting, diffuse abdominal pain and hypoglycaemic symptoms, even after the smallest amount of sugar or fruit) [ 25 ]. [ojrd.biomedcentral.com]

Other Possible Causes of these Symptoms * Abdominal pain * Ataxia * Convulsions * Lethargy * Loss of scalp hair * Mental retardation * Metabolic acidosis * Muscle twitching * Muscle weakness * Rapid breathing * Reduced muscle tone * Vomiting Prevention [checkorphan.org]

In mild cases the symptoms may be overlooked; in severe cases symptoms are more obvious and may include muscle twitching, involuntary movement, cardiac arrhythmias, disorientation, and coma. [medical-dictionary.thefreedictionary.com]

[…] carboxylase deficiency Some cases of defects in biotinidase (BRMCD: biotin responsive multiple carboxylase deficiency) are generally associated with episodes of coma, lactic acidosis with ketosis, neurological disorders and cutaneous symptoms (rashes, eczema, alopecia [ojrd.biomedcentral.com]

Case 1 19 A 15 year old boy with MELAS experienced visual and auditory hallucinations, delirium and violent behaviour, associated with raised blood and cerebrospinal fluid lactate concentrations. [adc.bmj.com]

[…] tissues (sepsis), certain types of glycogen storage disease, Reye syndrome, short-bowel syndrome, liver failure, a defect in the heart or blood vessels that leads to a deficiency in the amount of oxygen reaching the body’s tissues (hypoxia) and bacterial meningitis [rarediseases.org]

ataxia, and a characteristic wide-based gait. [orpha.net]

Our physical examination showed slurred speech, poor vision, and hearing impairment. Moderate mental retardation with bilateral sensorineural hearing impairment and right homonymous hemianopia were observed. [neurologyindia.com]

Hyperlactacidemia was associated with dramatic increase in lactate/pyruvate ratio, without anoxia, in contrast with decreased beta hydroxybutyrate/acetoacetate ratio. [ncbi.nlm.nih.gov]

Liver biopsies revealed a decrease in pyruvate carboxylase activity and normal pyruvate decarboxylase activity. No inhibitor of TPP-ATP phosphoryl transferase was detected in urine from the patients. [ncbi.nlm.nih.gov]

Muscle and liver biopsies are invasive procedures with adverse side effects. [clinchem.aaccjnls.org]