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MedGen UID:
Concept ID:
Pathologic Function
Synonym: Acidoses
SNOMED CT: Acidosis (51387008)
HPO: HP:0001941


Abnormal acid accumulation or depletion of base. [from HPO]

Conditions with this feature

Multiple acyl-CoA dehydrogenase deficiency
MedGen UID:
Concept ID:
Disease or Syndrome
Multiple acyl-CoA dehydrogenase deficiency (MADD) represents a clinical spectrum in which presentations can be divided into type I (neonatal onset with congenital anomalies), type II (neonatal onset without congenital anomalies), and type III (late onset). Individuals with type I or II MADD typically become symptomatic in the neonatal period with severe metabolic acidosis, which may be accompanied by profound hypoglycemia and hyperammonemia. Many affected individuals die in the newborn period despite metabolic treatment. In those who survive the neonatal period, recurrent metabolic decompensation resembling Reye syndrome and the development of hypertrophic cardiomyopathy can occur. Congenital anomalies may include dysmorphic facial features, large cystic kidneys, hypospadias and chordee in males, and neuronal migration defects (heterotopias) on brain MRI. Individuals with type III MADD, the most common presentation, can present from infancy to adulthood. The most common symptoms are muscle weakness, exercise intolerance, and/or muscle pain, although metabolic decompensation with episodes of rhabdomyolysis can also be seen. Rarely, individuals with late-onset MADD (type III) may develop severe sensory neuropathy in addition to proximal myopathy.
Glomerulopathy with fibronectin deposits 1
MedGen UID:
Concept ID:
Disease or Syndrome
Glomerulopathy with fibronectin deposits (GFND) is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin (FN1; 135600) (Castelletti et al., 2008). Genetic Heterogeneity of Glomerulopathy with Fibronectin Deposits The GFND1 locus maps to chromosome 1q32. See also GFND2 (601894), which is caused by mutation in the FN1 gene (135600) on chromosome 2q35.
Malignant hyperthermia, susceptibility to, 4
MedGen UID:
Concept ID:
Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.
Disorder of isoleucine metabolism
MedGen UID:
Concept ID:
Disease or Syndrome
Vici syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
With the current widespread use of multigene panels and comprehensive genomic testing, it has become apparent that the phenotypic spectrum of EPG5-related disorder represents a continuum. At the most severe end of the spectrum is classic Vici syndrome (defined as a neurodevelopmental disorder with multisystem involvement characterized by the combination of agenesis of the corpus callosum, cataracts, hypopigmentation, cardiomyopathy, combined immunodeficiency, microcephaly, and failure to thrive); at the milder end of the spectrum are attenuated neurodevelopmental phenotypes with variable multisystem involvement. Median survival in classic Vici syndrome appears to be 24 months, with only 10% of children surviving longer than age five years; the most common causes of death are respiratory infections as a result of primary immunodeficiency and/or cardiac insufficiency resulting from progressive cardiac failure. No data are available on life span in individuals at the milder end of the spectrum.
Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis
MedGen UID:
Concept ID:
Disease or Syndrome
Fanconi-Bickel syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose (Manz et al., 1987). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966). Use of the term glycogenosis type XI introduced by Hug (1987) is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport.
Mitochondrial complex 1 deficiency, nuclear type 13
MedGen UID:
Concept ID:
Disease or Syndrome
Mitochondrial DNA depletion syndrome 17
MedGen UID:
Concept ID:
Disease or Syndrome
Hypokalemic tubulopathy and deafness
MedGen UID:
Concept ID:
Disease or Syndrome
Hypokalemic tubulopathy and deafness (HKTD) is an autosomal recessive disorder characterized by hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeostasis, and sensorineural deafness (Schlingmann et al., 2021).

Professional guidelines


Daily JP, Minuti A, Khan N
JAMA 2022 Aug 2;328(5):460-471. doi: 10.1001/jama.2022.12366. PMID: 35916842
Long B, Lentz S, Koyfman A, Gottlieb M
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Chen TK, Knicely DH, Grams ME
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Recent clinical studies


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Pediatr Clin North Am 2019 Feb;66(1):135-157. doi: 10.1016/j.pcl.2018.08.011. PMID: 30454739
DeFronzo R, Fleming GA, Chen K, Bicsak TA
Metabolism 2016 Feb;65(2):20-9. Epub 2015 Oct 9 doi: 10.1016/j.metabol.2015.10.014. PMID: 26773926
Kraut JA, Madias NE
Nat Rev Nephrol 2010 May;6(5):274-85. Epub 2010 Mar 23 doi: 10.1038/nrneph.2010.33. PMID: 20308999
Lim S
Acta Med Indones 2007 Jul-Sep;39(3):145-50. PMID: 17936961


Palmer BF, Kelepouris E, Clegg DJ
Adv Ther 2021 Feb;38(2):949-968. Epub 2020 Dec 26 doi: 10.1007/s12325-020-01587-5. PMID: 33367987Free PMC Article
Bagga A, Sinha A
Indian J Pediatr 2020 Sep;87(9):733-744. Epub 2020 Jun 26 doi: 10.1007/s12098-020-03318-8. PMID: 32591997
Alexander RT, Bitzan M
Pediatr Clin North Am 2019 Feb;66(1):135-157. doi: 10.1016/j.pcl.2018.08.011. PMID: 30454739
Suetrong B, Walley KR
Chest 2016 Jan;149(1):252-61. Epub 2016 Jan 6 doi: 10.1378/chest.15-1703. PMID: 26378980
Kraut JA, Madias NE
Nat Rev Nephrol 2010 May;6(5):274-85. Epub 2010 Mar 23 doi: 10.1038/nrneph.2010.33. PMID: 20308999


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Zha Y, Qian Q
Nutrients 2017 Feb 27;9(3) doi: 10.3390/nu9030208. PMID: 28264439Free PMC Article
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Allison MG, McCurdy MT
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Patwardhan VB
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Clinical prediction guides

Duan J, Chen L, Liu X, Bozbay S, Liu Y, Wang K, Esquinas AM, Shu W, Yang F, He D, Chen Q, Wei B, Chen B, Li L, Tang M, Yuan G, Ding F, Huang T, Zhang Z, Tang Z, Han X, Jiang L, Bai L, Hu W, Zhang R, Mina B
Crit Care 2022 Jul 3;26(1):196. doi: 10.1186/s13054-022-04060-7. PMID: 35786223Free PMC Article
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Arch Gynecol Obstet 2022 Jun;305(6):1383-1392. Epub 2021 Oct 2 doi: 10.1007/s00404-021-06268-4. PMID: 34599678Free PMC Article
Kalafat E, Khalil A
Curr Opin Obstet Gynecol 2018 Dec;30(6):344-354. doi: 10.1097/GCO.0000000000000490. PMID: 30299319
Mihai S, Codrici E, Popescu ID, Enciu AM, Albulescu L, Necula LG, Mambet C, Anton G, Tanase C
J Immunol Res 2018;2018:2180373. Epub 2018 Sep 6 doi: 10.1155/2018/2180373. PMID: 30271792Free PMC Article
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Recent systematic reviews

Matyukhin I, Patschan S, Ritter O, Patschan D
Kidney Blood Press Res 2020;45(4):523-531. Epub 2020 Jul 14 doi: 10.1159/000507813. PMID: 32663831
Smith ZR, Horng M, Rech MA
Pharmacotherapy 2019 Sep;39(9):946-963. Epub 2019 Aug 29 doi: 10.1002/phar.2316. PMID: 31361914
Osadnik CR, Tee VS, Carson-Chahhoud KV, Picot J, Wedzicha JA, Smith BJ
Cochrane Database Syst Rev 2017 Jul 13;7(7):CD004104. doi: 10.1002/14651858.CD004104.pub4. PMID: 28702957Free PMC Article
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