Lactic-acidemia: Causes & Reasons

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Possible Causes for lactic acidemia

Glycogen Storage Disease due to Glucose-6-Phosphat Transport Defect

The production of excess pyruvate, at levels above of the capacity of the TCA cycle to completely oxidize it, results in its reduction to lactate resulting in lactic acidemia [themedicalbiochemistrypage.org]

acidemia) Without treatment, patients do not grow well (short stature) and have osteopenia. [quizlet.com]

acidemia, hyperlipidemia, and hyperuricemia. [genecards.org]

Pyruvate Carboxylase Deficiency

Pyruvate carboxylase deficiency, complex form, presents in early infancy with lethal metabolic acidosis, resulting from ketoacidosis and lactic acidemia. [ncbi.nlm.nih.gov]

Its deficiency causes multiorgan metabolic imbalance that predominantly manifests with lactic acidemia and neurological dysfunction at an early age. [ncbi.nlm.nih.gov]

He survived from neonatal lactic acidemia and is alive at 9 years of age with a mild developmental delay. [ncbi.nlm.nih.gov]

Glycogen Storage Disease Type 1

GSD Ia is characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, hyperlipidemia and short stature. [mayoclinic.pure.elsevier.com]

The condition usually manifests during the first year of life with severe hypoglycemia, growth retardation, hepatomegaly, bleeding diathesis, lactic acidemia, hyperlipidemia [labs.gosh.nhs.uk]

Lactate exits the hepatocyte, causing clinically significant lactic acidemia in proportion to the degree of stimulus for glycogen breakdown. [emedicine.medscape.com]

Glycogen Storage Disease Type 6

GSD Ia is characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, hyperlipidemia and short stature. [mayoclinic.pure.elsevier.com]

In addition, lactic acidemia, hyperlipidemia and hyperuricemia in patients lead to long-term complications that include hepatic adenomas, osteoporosis and progressive renal [sema4genomics.com]

In type I GSD, glucagon does not elicit a glycemic response and exacerbates lactic acidemia. [clinicaladvisor.com]

Fructose-1,6-Diphosphatase Deficiency

Fructose-1,6-diphosphatase (FDPase) deficiency is characterized by episodes of lactic acidemia, hypoglycemia, and ketonuria. [ncbi.nlm.nih.gov]

Steiner, Robert D. 2000-04-01 00:00:00 Fructose-1,6-diphosphatase (FDPase) deficiency is characterized by episodes of lactic acidemia, hypoglycemia, and ketonuria. [deepdyve.com]

Lactic acidemia / lactic aciduria，高乳酸血症／乳酸尿症 1. lactic aciduria (lactic acidemia)，乳酸尿症（高乳酸血症） 70 99% 2. α-ketoglutaric aciduria，α‐ケトグルタル酸尿症 95 99% 3. fumaric aciduria，フマル酸尿症 [jc-metabolomics.com]

Hyperproteinemia

Contributions of hyperproteinemia, lactic acidemia, and hyperphosphatemia to an increased serum anion gap. Wang F, Butler T, Rabbani GH, Jones PK. [mdnxs.com]

The hyperproteinemia was attributed to dehydration, the lactic acidemia to shock, and the hyperphosphatemia to acidosis and transient renal failure. [mdnxs.com]

The acidosis is more profound than would be expected on the basis of stool losses of bicarbonate, because of superimposed lactic acidemia and renal failure. [mdnxs.com]

MELAS Syndrome

The diagnosis is based on characteristic clinical symptoms, presence of lactic acidemia, mitochondriopathy in muscle, and low density lesions on cerebral CT, most frequently [ncbi.nlm.nih.gov]

Muscle wasting, arreflexia, and lactic acidemia following exercise were noted. [ncbi.nlm.nih.gov]

MELAS syndrome is a multi-organ disease with broad manifestations including stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, hearing [ncbi.nlm.nih.gov]

Bradyarrhythmia

He developed lipemia and green urine and subsequently, a progressive severe lactic acidemia and bradyarrhythmias unresponsive to conventional treatment. [insights.ovid.com]

Mitochondrial Trifunctional Protein Deficiency

Patients 1 and 2 had siblings who had died of lactic acidemia during the neonatal period. These patients also manifested lactic acidemia and died in the neonatal period. [ncbi.nlm.nih.gov]

acidemia, acute renal failure, cardiomyopathy, and sudden death. [spandidos-publications.com]

Laboratory tests reveal hypoketotic hypoglycemia, mild metabolic acidosis with or without lactic acidemia, elevated transaminases, and hyper- ammonemia. [genico.ch]

Glycogen Storage Disease Type 0

Patients with glycogen-storage disease type 0 have normal-to-increased response to glucagon in the fed state, with hyperglycemia and lactic acidemia. [2] Laboratory Studies [en.wikipedia.org]

acidemia) Without treatment, patients do not grow well (short stature) and have osteopenia. [quizlet.com]

It is manifested by glycogen accumulation in liver and renal tubule cells; hypoglycemia; lactic acidemia; ketosis and hyperlipemia. [usmle.biochemistryformedics.com]

Barth Syndrome

Some patients will also be found to have a lactic aciduria and lactic acidemia, usually at times of a cardiac crisis. [web.archive.org]

An affected patient had intermittent lactic acidemia, borderline low plasma carnitine, the latter decreasing during periods of illness, and low muscle carnitine (27% pretreatment [ncbi.nlm.nih.gov]

Hyperalaninemia

Glucose monitoring in both patients revealed daily fluctuations from fasting hypoglycemia to postprandial hyperglycemia and lactic acidemia. [degruyter.com]

[…] hypoglycemia, lactic acidemia, elevated triacylglycerol Liver cannot generate glucose and release it. Liver is making lots of G-6-P through glycogen degradation. [quizlet.com]

Lactic acidemia / lactic aciduria 1. lactic aciduria (lactic acidemia) 70 99% 2. α-ketoglutaric aciduria 95 99% 3. fumaric aciduria 98 99% 4. pyruvate dehydrogenase deficiency [jc-metabolomics.com]

Fanconi-Bickel Syndrome

acidemia, hyperlipidemia, and hyperuricemia. [genecards.org]

The clinical manifestations are growth retardation, hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, and hyperlipidemia. [ommbid.mhmedical.com]

In type I GSD, glucagon does not elicit a glycemic response and exacerbates lactic acidemia. [clinicaladvisor.com]

Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

[…] inability to release glucose into blood stream during fasting (ie. in the night when asleep) hepatomegaly, severe fasting hypoglycemia, lactic acidemia, hyperuricemia and [quizlet.com]

The clinical manifestations are growth retardation, hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, and hyperlipidemia. [ommbid.mhmedical.com]

The major problem is hypoglycemia (low glucose) and lactic acidemia due to inefficient conversion of lactic acid to free glucose. [sandwalk.blogspot.com]

Disorders of Pyruvate Metabolism and Gluconeogenesis

acidemia, hyperlipidemia, and hyperuricemia. [genecards.org]

The clinical manifestations are growth retardation, hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, and hyperlipidemia. [ommbid.mhmedical.com]

Symptoms of this disorder include the presence of excess acid in the circulating blood (lactic acidemia); loss of muscle tone (hypotonia); abnormal enlargement of the liver [rarediseases.org]

Glycogen Storage Disease

Patients with GSD I have a wide spectrum of clinical manifestations, including hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, hyperuricemia, and growth retardation [ncbi.nlm.nih.gov]

The condition usually manifests during the first year of life with severe hypoglycemia, growth retardation, hepatomegaly, bleeding diathesis, lactic acidemia, hyperlipidemia [labs.gosh.nhs.uk]

Lactate exits the hepatocyte, causing clinically significant lactic acidemia in proportion to the degree of stimulus for glycogen breakdown. [emedicine.medscape.com]

Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency

Reversible alexia, mitochondrial myopathy, and lactic acidemia. Neurology 1979; 29:717-20. 18. Santos-García D, Abella J, De Domingo B, de la Fuente-Fernández R. [smj.org.sg]

Van Biervliet JPGM, Bruinvis L, Ketting D, De Bree PK, Van der Heide C, Wodman SK (1977) Hereditary mitochondrial myopathy with lactic acidemia, a de Toni-Fanconi-Debré syndrome [link.springer.com]

acidemia Syndrome, myoglobinuria and exercise intolerance syndrome, exercise intolerance, proximal weakness myoglobinuria syndrome, encephalopathy and seizures syndrome, [brevets-patents.ic.gc.ca]

Anemia

Anemia can cause tissue hypoxia, which is accompanied by lactic acidemia, vasodilatation, and a hyperdynamic circulatory state. [revespcardiol.org]

Hereditary Fructose Intolerance

Competition between urate and lactate for renal tubule excretion accounts for the lactic acidemia. [namrata.co]

There is a build up of lactic acid in the blood above the normal levels – lactic acidemia. [healthhype.com]

The symptoms of hereditary fructose enzyme deficiency are mainly associated with the liver toxicity, uricemia and lactic acidemia. [healthhype.com]

Hyperuricemia

Due to this interaction lactic acidemia impairs urate reabsorption and excretion while hyperuricemia results in impaired lactate excretion and reabsorption. [themedicalbiochemistrypage.org]

Lactic Acidosis

Bicarbonate does not increase left ventricular contractility during L-lactic acidemia in pigs. Am Rev Respir Dis 1993;148(2):317-22. [thoracic.org]

Called also the Cori cycle. lactic acidemia lactacidemia. lactic acidosis the state in ruminants in which there is an excess of lactic acid and lactate in the body, due usually [medical-dictionary.thefreedictionary.com]

acidemia. [aclr.com.es]

Glycogen Storage Disease Type 3

It is manifested by glycogen accumulation in liver and renal tubule cells; hypoglycemia; lactic acidemia; ketosis and hyperlipemia. [usmle.biochemistryformedics.com]

In type I GSD, glucagon does not elicit a glycemic response and exacerbates lactic acidemia. [clinicaladvisor.com]

The clinical manifestations are growth retardation, hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, and hyperlipidemia. [ommbid.mhmedical.com]

Acidosis

Bicarbonate does not increase left ventricular contractility during L-lactic acidemia in pigs. Am Rev Respir Dis 1993;148(2):317-22. [thoracic.org]

Lactic acidosis may not necessarily produce acidemia in a patient. [emedicine.medscape.com]

Lactic acidosis is the most common cause of metabolic acidosis in hospitalized patients. [merckmanuals.com]

Glycogen Storage Disease Type 4

[…] deficiency Findings: (same as Ia) 1) Hepato/renalmegaly 2) Fasting hypoglycemia 3) Lactic acidemia 4) Hyperuricemia 5) Hyperlipidemia *Recurrent infections from neutropenia [quizlet.com]

The clinical manifestations are growth retardation, hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, and hyperlipidemia. [ommbid.mhmedical.com]

Clinical complications in patients include hepatomegaly, nephromegaly, hypoglycemia, hyperlipidemia, hyperuricemia, lactic acidemia, and growth retardation [ 5 ]. [ojrd.biomedcentral.com]

Glycogen Storage Disease Type 10

acidemia. [rrnursingschool.biz]

The clinical manifestations are growth retardation, hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, and hyperlipidemia. [ommbid.mhmedical.com]

Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary [mendelian.co]

Biotinidase Deficiency

acidemia In the long term if untreated, hearing loss and optic atrophy can also occur 4. [radiopaedia.org]

[…] present in infancy with 4 : lethargy anorexia hypotonia developmental delay alopecia seborrheic dermatitis conjunctivitis and mucositis erythematous rash seizures ataxia lactic [radiopaedia.org]

[…] present in infancy with 4 : lethargy anorexia hypotonia developmental delay alopecia seborrhoeic dermatitis conjunctivitis and mucositis erythematous rash seizures ataxia lactic [radiopaedia.org]

Sideroblastic Anemia

Definition A rare mitochondrial disorder characterized by sideroblastic anemia, muscle weakness, and exercise intolerance associated with persistent lactic acidemia. [uniprot.org]

acidemia, which is caused by defects in oxidative phosphorylation. [emedicine.medscape.com]

Emato-Oncologia Pediatrica (AIEOP), the investigators found no such insufficiency in 73% of patients. [10] Another cardinal feature of Pearson syndrome is persistent or intermittent lactic [emedicine.medscape.com]

Mitochondrial DNA Depletion Syndrome

We evaluated 675 Japanese patients having profound lactic acidemia, or patients having symptoms or signs of multiple-organ origin simultaneously without lactic acidemia on [ncbi.nlm.nih.gov]

acidemia (Moraes et al. 1991 ; Tritschler et al. 1992 ; Vu et al. 1998 ; Ducluzeau et al. 1999 ; reviewed by Elpeleg 2003 ). [ncbi.nlm.nih.gov]

In the first reported family, the index case suffered from hypotonia, external ophthalmoplegia, and lactic acidemia, and expired at 3 mo of age. [doi.org]

Gout

Due to this interaction lactic acidemia impairs urate reabsorption and excretion while hyperuricemia results in impaired lactate excretion and reabsorption. [themedicalbiochemistrypage.org]

Phosphoenolpyruvate Carboxykinase Deficiency

Symptoms of this disorder include the presence of excess acid in the circulating blood (lactic acidemia); loss of muscle tone (hypotonia); abnormal enlargement of the liver [rarediseases.org]

Lactic acidemia and mitochondrial disease. Mol Genet Metab. 2006 Sep-Oct. 89(1-2):3-13. [Medline]. Murin R, Cesar M, Kowtharapu BS, et al. [emedicine.medscape.com]