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Congenital Lactic Acidosis
Lactic Acidosis Congenital Infantile
Presentation
- This enzymatic deficiency allowed a demonstration of an "intercomplex" exchange of the components of the mammalian pyruvate dehydrogenase system and indicated that the first component is normally present in an apparent excess.[ncbi.nlm.nih.gov]
- Therefore, treatment is directed toward the specific symptoms and signs that are present in each individual.[rarediseases.org]
Entire Body System
Fatigue
- 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]
- 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]
- 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]
- Symptoms: Seizures, hypotonia, fatigue, nystagmus, poor reflexes, eating & swallowing difficulties, breathing problems, poor motor function, ataxia.[umdf.org]
Respiratoric
Tachypnea
- 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]
Gastrointestinal
Abdominal Pain
- 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]
Musculoskeletal
Muscle Twitch
- 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]
Skin
Hirsutism
- Clinical description Facial dysmorphism is characterized by a prominent forehead, wide nasal bridge, hypertelorism, broad anterior fontanelle, midfacial hypoplasia, broad midline, synophrys, and a characteristic arched form of the eyebrows, along with mild hirsutism[orpha.net]
Alopecia
- […] 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]
Psychiatrical
Auditory Hallucination
- 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]
Withdrawn
- When DCA was withdrawn for 12 hours, hyperlactataemia recurred. Continuous DCA administration over the ensuing nine months was associated with normalisation of cardiac size, wall thickness, and left ventricular function.[adc.bmj.com]
Neurologic
Meningism
- […] 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]
Truncal Ataxia
- ataxia, and a characteristic wide-based gait.[orpha.net]
Profound Mental Retardation
- The subsequent clinical picture was dominated by impaired physical growth and a very consistent pattern of static cerebral palsy-like encephalopathy with spasticity and severe to profound mental retardation seen in over 80% of cases.[ncbi.nlm.nih.gov]
Slurred Speech
- 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]
Workup
- The diagnosis workup is summarized in Figure 2.[ojrd.biomedcentral.com]
Serum
Hyperlactacidemia
- Hyperlactacidemia was associated with dramatic increase in lactate/pyruvate ratio, without anoxia, in contrast with decreased beta hydroxybutyrate/acetoacetate ratio.[ncbi.nlm.nih.gov]
Microbiology
Plasmodium Falciparum
- falciparum malaria, hyperlactataemia is one of the strongest biochemical predictors of death and is associated with a mortality up to 40%. 16 DCA rapidly decreases lactic acidosis in such patients 17 and significantly improves survival in a rodent model[adc.bmj.com]
Biopsy
Liver Biopsy
- 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]
Treatment
- Therefore, DCA therapy may be useful in treatment of chronic congenital lactic acidosis if this treatment is started sufficiently early.[ncbi.nlm.nih.gov]
- There is no proven treatment for congenital lactic acidosis. Treatments that are occasionally used or that are under investigation include the ketogenic diet and dichloroacetate.[en.wikipedia.org]
- Standard Therapies Treatment There is no proven treatment for any congenital lactic acidosis that is due to a genetic mitochondrial disease. Therefore, treatment is directed toward the specific symptoms and signs that are present in each individual.[rarediseases.org]
Prognosis
- Prognosis In the neonatal form, the prognosis is very poor. In other patients, life expectancy is often less than 5 years due to severe episodes of acidosis. The documents contained in this web site are presented for information purposes only.[orpha.net]
- Congenital lactic acidosis presents in the newborn period, usually in a symptomatic infant (hypotonia, weakness, respiratory failure), and has a poor prognosis.[jnpm.org]
- Arterial Pressure: Therapeutic Goals and Pharmacologic Support,Mechanisms; Detection and Potential Management of Microcirculatory Disturbances; Detection of Hypoxia at the Cellular Level; Type A & B Lactic Acidosis: Recognition, Kinetics, and Associated Prognosis[books.google.com]
- .: 44 191 2223007; Fax: 44 191 2824373; E-mail: V.Nesbitt@ncl.ac.uk Abstract: Congenital lactic acidosis presents in the newborn period, usually in a symptomatic infant (hypotonia, weakness, respiratory failure), and has a poor prognosis.[content.iospress.com]
Etiology
- Etiology SLSJ congenital lactic acidosis is caused by two types of mutations in the LRPPRC gene (2p21). The most frequent is a single A354V mutation.[orpha.net]
- However, in many cases of type B lactic acidosis, occult tissue hypoperfusion is now recognized to accompany the primary etiology. Type B is divided into 3 subtypes based on underlying etiology.[emedicine.medscape.com]
- Lactic acid is a by-product of glucose metabolism. lac·tic ac·i·do·sis ( laktik asi-dōsis ) Metabolic acidosis caused by accumulation of lactic acid due to tissue hypoxia, drug effect, or unknown etiology. acidosis a pathological condition resulting from[medical-dictionary.thefreedictionary.com]
- The L/P molar ratio, in the absence of a clear etiology of shock and hypoperfusion, was very high.[ijccm.org]
Epidemiology
- Neonatal hepatic syndrome 187 Severe hepatocellular dysfunction 189 Hypoglycemia 192 Nonimmune fetal hydrops 193 Initial management 194 Summary comments 196 Biblipgraphy 197 Newborn screening 198 Screening for medical intervention 199 Screening to answer epidemiological[books.google.com]
- Addresses the full range of renal problems, from epidemiology to monitoring and diagnostic procedures to pathophysiology of organ systems in relation to kidney failure.[books.google.de]
- Summary Epidemiology The exact prevalence of this disorder is not known. It was first described in Saguenay-Lac-Saint-Jean (Quebec, Canada) where its prevalence at birth is estimated to be 1/2,000.[orpha.net]
- Epidemiology The prevalence is very difficult to estimate, as it occurs in critically ill patients, who are not often suitable subjects for research.[patient.info]
Sex distribution
Age distribution
Pathophysiology
- […] biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice 231 Acute and chronic liver disease 250 Glucose metabolism and the pathophysiology[books.google.com]
- Addresses the full range of renal problems, from epidemiology to monitoring and diagnostic procedures to pathophysiology of organ systems in relation to kidney failure.[books.google.de]
- Therefore, a careful history should be obtained to evaluate the underlying pathophysiologic cause of shock that contributed to lactic acidosis.[odlarmed.com]
- Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Pyruvic acid, an intermediate metabolite, plays an important role in linking carbohydrate and amino acid metabolism to the tricarboxylic[mayomedicallaboratories.com]
- […] is converted into glucose (gluconeogenesis) and 50% into CO2 and water (citric acid cycle) this results in no net acid accumulation but requires aerobic metabolism the small amount of lactate that is renally filtered (180mmol/day) is fully reabsorbed PATHOPHYSIOLOGY[lifeinthefastlane.com]
Prevention
- It will facilitate and accelerate diagnosis in a large proportion of cases, allow early rehabilitation to alleviate the chronic clinical course, and prevent further affected births in high-risk families. Crown Copyright 2014.[ncbi.nlm.nih.gov]
- 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]
- Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. [books.google.es]
- Recent studies, however, indicate that this potential side effect may be mitigated or prevented by careful dosing, based on a person’s particular genotype.[rarediseases.org]
- Impaired electron transfer through the respiratory chain prevents oxidation of NADH and FADH 2 produced by the PDC reaction and the tricarboxylic acid cycle, and ATP levels fall.[adc.bmj.com]