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Lactic acidosis, chronic adult form

MedGen UID:
320642
•Concept ID:
C1835591
•
Disease or Syndrome
Synonym: Lactic Acidosis, Chronic Adult Form
 
Monarch Initiative: MONDO:0007873
OMIM®: 150170

Clinical features

From HPO
Hyperuricemia
MedGen UID:
149260
•Concept ID:
C0740394
•
Disease or Syndrome
An abnormally high level of uric acid in the blood.
See: Feature record | Search on this feature
Chronic lactic acidosis
MedGen UID:
374224
•Concept ID:
C1839437
•
Disease or Syndrome
A chronic form of lactic acidemia.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Macrocytosis in Mitochondrial DNA Deletion Syndromes.
Almarzooqi F, Vallance H, Mezei M, Lehman A, Horvath G, Rakic B, Zypchen L, Mattman A
Acta Haematol 2023;146(3):220-225. Epub 2023 Feb 10 doi: 10.1159/000529311. PMID: 36774923
Thiamine supplementation in the critically ill.
Manzanares W, Hardy G
Curr Opin Clin Nutr Metab Care 2011 Nov;14(6):610-7. doi: 10.1097/MCO.0b013e32834b8911. PMID: 21912244
LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.
Debray FG, Morin C, Janvier A, Villeneuve J, Maranda B, Laframboise R, Lacroix J, Decarie JC, Robitaille Y, Lambert M, Robinson BH, Mitchell GA
J Med Genet 2011 Mar;48(3):183-9. Epub 2011 Jan 25 doi: 10.1136/jmg.2010.081976. PMID: 21266382
Cardiac beriberi: morphological findings in two fatal cases.
Bello S, Neri M, Riezzo I, Othman MS, Turillazzi E, Fineschi V
Diagn Pathol 2011 Jan 19;6:8. doi: 10.1186/1746-1596-6-8. PMID: 21244717Free PMC Article
Oxidative capacity of the skeletal muscle and lactic acid kinetics during exercise in normal subjects and in patients with COPD.
Maltais F, Simard AA, Simard C, Jobin J, Desgagnés P, LeBlanc P
Am J Respir Crit Care Med 1996 Jan;153(1):288-93. doi: 10.1164/ajrccm.153.1.8542131. PMID: 8542131

Diagnosis

Macrocytosis in Mitochondrial DNA Deletion Syndromes.
Almarzooqi F, Vallance H, Mezei M, Lehman A, Horvath G, Rakic B, Zypchen L, Mattman A
Acta Haematol 2023;146(3):220-225. Epub 2023 Feb 10 doi: 10.1159/000529311. PMID: 36774923
Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.
Sen K, Grahame G, Bedoyan JK, Gropman AL
Eur J Paediatr Neurol 2021 Mar;31:27-30. Epub 2021 Jan 22 doi: 10.1016/j.ejpn.2021.01.006. PMID: 33592356Free PMC Article
Liver neoplasms in methylmalonic aciduria: An emerging complication.
Forny P, Hochuli M, Rahman Y, Deheragoda M, Weber A, Baruteau J, Grunewald S
J Inherit Metab Dis 2019 Sep;42(5):793-802. Epub 2019 Jul 17 doi: 10.1002/jimd.12143. PMID: 31260114
Kidney involvement in MELAS syndrome: Description of 2 cases.
Alcubilla-Prats P, Solé M, Botey A, Grau JM, Garrabou G, Poch E
Med Clin (Barc) 2017 Apr 21;148(8):357-361. Epub 2017 Mar 7 doi: 10.1016/j.medcli.2017.01.029. PMID: 28283275
Thiamine supplementation in the critically ill.
Manzanares W, Hardy G
Curr Opin Clin Nutr Metab Care 2011 Nov;14(6):610-7. doi: 10.1097/MCO.0b013e32834b8911. PMID: 21912244

Therapy

Lactic acidosis occurrence during exercises in the smoke chamber in a 53-year-old firefighter with no significant medical history.
Bronisz A, Spychalska M, Szafrańska M
Int J Occup Med Environ Health 2014 Apr;27(2):335-9. Epub 2014 Apr 1 doi: 10.2478/s13382-014-0263-y. PMID: 24692075
Thiamine supplementation in the critically ill.
Manzanares W, Hardy G
Curr Opin Clin Nutr Metab Care 2011 Nov;14(6):610-7. doi: 10.1097/MCO.0b013e32834b8911. PMID: 21912244

Prognosis

Liver neoplasms in methylmalonic aciduria: An emerging complication.
Forny P, Hochuli M, Rahman Y, Deheragoda M, Weber A, Baruteau J, Grunewald S
J Inherit Metab Dis 2019 Sep;42(5):793-802. Epub 2019 Jul 17 doi: 10.1002/jimd.12143. PMID: 31260114
LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.
Debray FG, Morin C, Janvier A, Villeneuve J, Maranda B, Laframboise R, Lacroix J, Decarie JC, Robitaille Y, Lambert M, Robinson BH, Mitchell GA
J Med Genet 2011 Mar;48(3):183-9. Epub 2011 Jan 25 doi: 10.1136/jmg.2010.081976. PMID: 21266382
Cardiac beriberi: morphological findings in two fatal cases.
Bello S, Neri M, Riezzo I, Othman MS, Turillazzi E, Fineschi V
Diagn Pathol 2011 Jan 19;6:8. doi: 10.1186/1746-1596-6-8. PMID: 21244717Free PMC Article
Oxidative capacity of the skeletal muscle and lactic acid kinetics during exercise in normal subjects and in patients with COPD.
Maltais F, Simard AA, Simard C, Jobin J, Desgagnés P, LeBlanc P
Am J Respir Crit Care Med 1996 Jan;153(1):288-93. doi: 10.1164/ajrccm.153.1.8542131. PMID: 8542131

Clinical prediction guides

Kidney involvement in MELAS syndrome: Description of 2 cases.
Alcubilla-Prats P, Solé M, Botey A, Grau JM, Garrabou G, Poch E
Med Clin (Barc) 2017 Apr 21;148(8):357-361. Epub 2017 Mar 7 doi: 10.1016/j.medcli.2017.01.029. PMID: 28283275
LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.
Debray FG, Morin C, Janvier A, Villeneuve J, Maranda B, Laframboise R, Lacroix J, Decarie JC, Robitaille Y, Lambert M, Robinson BH, Mitchell GA
J Med Genet 2011 Mar;48(3):183-9. Epub 2011 Jan 25 doi: 10.1136/jmg.2010.081976. PMID: 21266382
Cardiac beriberi: morphological findings in two fatal cases.
Bello S, Neri M, Riezzo I, Othman MS, Turillazzi E, Fineschi V
Diagn Pathol 2011 Jan 19;6:8. doi: 10.1186/1746-1596-6-8. PMID: 21244717Free PMC Article
Oxidative capacity of the skeletal muscle and lactic acid kinetics during exercise in normal subjects and in patients with COPD.
Maltais F, Simard AA, Simard C, Jobin J, Desgagnés P, LeBlanc P
Am J Respir Crit Care Med 1996 Jan;153(1):288-93. doi: 10.1164/ajrccm.153.1.8542131. PMID: 8542131

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