Lactic Acidemia: Causes & Reasons

Possible Causes for Lactic Acidemia

Lactic acidosis Lactic acidemia, Lacticacidemia, Hyperlacticacidemia, Lacticacidosis [more] An abnormal buildup of lactic acid in the body, leading to acidification of the [rarediseases.oscar.ncsu.edu]

The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. [ncbi.nlm.nih.gov]

Glycogen Storage Disease Type 1C

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

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

[…] glucose elevated Morning lethargy that responds to feeding Hyperglycemia after eating because glucose cannot be stored as glycogen; excess glucose gets pushed to lactate (lactic [quizlet.com]

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 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]

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

Barth Syndrome

Other laboratory abnormalities include intermittent lactic acidemia, relatively reduced plasma arginine and elevated plasma proline, hypocholesterolemia, hypoglycemia, mild [ommbid.mhmedical.com]

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]

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]

acidemia and ketonemia 6, 7 are considered to be responsible for the hyperuricemia. [scholars.northwestern.edu]

Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency

A patient with lactic acidemia and cytochrome oxidase deficiency.J Inherited Metab Dis. 1983; 6: 127-128 Scopus (22) PubMed Crossref Google Scholar Zeviani M Nonaka I Bonilla [pedneur.com]

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]

Reversible alexia, mitochondrial myopathy, and lactic acidemia. Neurology 1979; 29:717-20. http://dx.doi.org/10.1212/WNL.29.5.717 18. [smj.org.sg]

Fructose-1,6-Bisphosphatase 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]

acidemia 0004913 Vomiting Throwing up 0002013 5%-29% of people have these symptoms Apneic episodes in infancy 0005949 Coma 0001259 Drowsiness Sleepy 0002329 Elevated hepatic [rarediseases.info.nih.gov]

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]

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]

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 Type 0

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

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]

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

Muscle Phosphorylase Kinase Deficiency

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

[…] 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 major problem is hypoglycemia (low glucose) and lactic acidemia due to inefficient conversion of lactic acid to free glucose. [sandwalk.blogspot.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 3

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

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]

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]

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]

Mitochondrial Myopathy

Despite severe lactic acidemia, no defect was found in the rate of pyruvate oxidation among these patients. [ncbi.nlm.nih.gov]

Marked lactic acidemia occurs with even limited muscular exertion. [orpha.net]

Markesbery WR - Lactic acidemia, mitochondrial myopathy, and basal ganglia calcification. Neurology 29:1057, 1979. [ Links ] 29. [scielo.br]

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]

Hereditary Fructose Intolerance

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

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

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

Lactic Acidosis

There is an increasing trend in symptomatic lactic acidemia among patients under anti-retroviral therapy for AIDS. [symptoma.com]

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]

Sengers Syndrome

Exercise-induced lactic acidemia MedGen UID: 870819 •Concept ID: C4025277 • Disease or Syndrome A form of lactic acidemia that occurs following exercise or exertion. [ncbi.nlm.nih.gov]

Marked lactic acidemia occurs with even limited muscular exertion. [en.wikipedia.org]

Abnormality of blood and blood-forming tissues Thrombocytopenia Abnormality of metabolism/homeostasis Exercise-induced lactic acidemia Increased serum lactate Abnormality [ncbi.nlm.nih.gov]

3-Methylglutaconic Aciduria Type 5

Full cheeks High forehead Mandibular prognathia Myopathic facies Pointed chin Round face Abnormality of limbs Clubfoot Abnormality of metabolism/homeostasis Intermittent lactic [ncbi.nlm.nih.gov]

acidemia Abnormality of the cardiovascular system Cardiac arrhythmia Congestive heart failure Endocardial fibroelastosis Hypertrophic cardiomyopathy Increased left ventricular [ncbi.nlm.nih.gov]

Singh-Chhaparwal-Dhanda Syndrome

Succinic acidemia lactic acidosis congenital Succinic semialdehyde dehydrogenase deficiency Succinyl-CoA acetoacetate transferase deficiency Sudden Arrhythmia Death Syndrome [personalizedcause.com]

[…] panniculitis-like T-cell lymphoma Subependymal giant cell astrocytoma Subependymal nodular heterotopia Subependymoma Subpulmonary stenosis Subvalvular aortic stenosis Succinic acidemia [personalizedcause.com]

Pyruvate Dehydrogenase Deficiency

Infantile-onset mild to moderate lactic acidemia; normal lactate-to-pyruvate ratio despite acidemia Type B. [ncbi.nlm.nih.gov]

The diagnosis of PDHC deficiency is suspected in individuals with lactic acidemia who have a progressive or intermittent neurologic syndrome including: poor acquisition or [ncbi.nlm.nih.gov]

Pyruvate Carboxylase Deficiency Type A

Infantile-onset mild to moderate lactic acidemia; normal lactate-to-pyruvate ratio despite acidemia Type B. [ncbi.nlm.nih.gov]

Lactic acidemia and mitochondrial disease. Mol Genet Metab. 2006 Sep-Oct. 89(1-2):3-13. [QxMD MEDLINE Link]. Wang D, De Vivo D. Pyruvate carboxylase deficiency. [emedicine.medscape.com]

The diagnosis of PDHC deficiency is suspected in individuals with lactic acidemia who have a progressive or intermittent neurologic syndrome including: poor acquisition or [ncbi.nlm.nih.gov]

3-Methylglutaconic Aciduria Type 8

Full cheeks High forehead Mandibular prognathia Myopathic facies Pointed chin Round face Abnormality of limbs Clubfoot Abnormality of metabolism/homeostasis Intermittent lactic [ncbi.nlm.nih.gov]

acidemia Abnormality of the cardiovascular system Cardiac arrhythmia Congestive heart failure Endocardial fibroelastosis Hypertrophic cardiomyopathy Increased left ventricular [ncbi.nlm.nih.gov]

3-Methylglutaconic Aciduria Type 1

Full cheeks High forehead Mandibular prognathia Myopathic facies Pointed chin Round face Abnormality of limbs Clubfoot Abnormality of metabolism/homeostasis Intermittent lactic [ncbi.nlm.nih.gov]

acidemia Abnormality of the cardiovascular system Cardiac arrhythmia Congestive heart failure Endocardial fibroelastosis Hypertrophic cardiomyopathy Increased left ventricular [ncbi.nlm.nih.gov]

Nuclear Gene-Encoded Leigh Syndrome

Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease. Neuropediatrics. 1986;17:129–31. [ncbi.nlm.nih.gov]

3-Methylglutaconic Aciduria Type 9

Full cheeks High forehead Mandibular prognathia Myopathic facies Pointed chin Round face Abnormality of limbs Clubfoot Abnormality of metabolism/homeostasis Intermittent lactic [ncbi.nlm.nih.gov]

acidemia Abnormality of the cardiovascular system Cardiac arrhythmia Congestive heart failure Endocardial fibroelastosis Hypertrophic cardiomyopathy Increased left ventricular [ncbi.nlm.nih.gov]