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Succinic acidemia

MedGen UID:
373921
•Concept ID:
C1838243
•
Disease or Syndrome
Synonym: Succinic Acidemia
 
Monarch Initiative: MONDO:0010871
OMIM®: 600335
Orphanet: ORPHA936

Clinical features

From HPO
Respiratory distress
MedGen UID:
96907
•Concept ID:
C0476273
•
Sign or Symptom
Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
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Lactic acidosis
MedGen UID:
1717
•Concept ID:
C0001125
•
Disease or Syndrome
An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening.
Monostori P, Godejohann M, Janda J, Galla Z, Rácz G, Klinke G, Szatmári I, Zsidegh P, Kohlmüller D, Kölker S, Hoffmann GF, Gramer G, Okun JG
Clin Biochem 2023 Jan;111:72-80. Epub 2022 Oct 3 doi: 10.1016/j.clinbiochem.2022.09.010. PMID: 36202155
Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry.
Kuhara T
J Chromatogr B Biomed Sci Appl 2001 Jul 5;758(1):3-25. doi: 10.1016/s0378-4347(01)00138-4. PMID: 11482733
Eleventh week amniocentesis for prenatal diagnosis of some metabolic diseases.
Kamoun PP, Chadefaux B
Prenat Diagn 1991 Sep;11(9):691-6. doi: 10.1002/pd.1970110905. PMID: 1788175

Recent clinical studies

Clinical prediction guides

Succinic acidemia: a new syndrome of organic acidemia associated with congenital lactic acidosis and decreased NADH-cytochrome c reductase activity.
Asano K, Miyamoto I, Matsushita T, Murakami Y, Minoura S, Wagatsuma T, Oshima M
Clin Chim Acta 1988 Apr 29;173(3):305-12. doi: 10.1016/0009-8981(88)90018-6. PMID: 3383430

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