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Propionic Acidemia.
Shchelochkov OA, Carrillo N, Venditti C. Shchelochkov OA, et al. 2012 May 17 [updated 2016 Oct 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2012 May 17 [updated 2016 Oct 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 22593918 Free Books & Documents. Review.
Without prompt diagnosis and management, this is followed by progressive encephalopathy manifesting as lethargy, seizures, or coma that can result in death. It is frequently accompanied by metabolic acidosis with anion gap, lactic acidosis, ketonuria, hypogly …
Without prompt diagnosis and management, this is followed by progressive encephalopathy manifesting as lethargy, seizures, or coma that can …
Lactic acidosis in childhood.
Israels S, Haworth JC, Dunn HG, Applegarth DA. Israels S, et al. Adv Pediatr. 1976;22:267-303. Adv Pediatr. 1976. PMID: 178159 Review.
Lactic acidosis due to tissue hypoxia is a well-known phenomenon (e.g., in shock and cardiopulmonary disease) and has not been discussed in this essay; nor has lactic acidosis due to exogenous causes like infusion of fructose or sorbitol, or admiminist …
Lactic acidosis due to tissue hypoxia is a well-known phenomenon (e.g., in shock and cardiopulmonary disease) and has not been …
Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism.
Verma A, Lehman AN, Gokcan H, Cropcho L, Black D, Dobrowolski SF, Vockley J, Bedoyan JK. Verma A, et al. Mol Genet Genomic Med. 2024 Jan;12(1):e2283. doi: 10.1002/mgg3.2283. Epub 2023 Sep 8. Mol Genet Genomic Med. 2024. PMID: 37688338 Free PMC article. Review.
The median and mean ages of diagnosis of PDCD are about 12 and 31 months, respectively. PDCD is a major cause of primary lactic acidosis with concomitant elevation in blood alanine (Ala) and proline (Pro) concentrations depending on phenotypic severity. ...We …
The median and mean ages of diagnosis of PDCD are about 12 and 31 months, respectively. PDCD is a major cause of primary lactic …
Lactic Acidosis in Children - A Varied Presentation.
Shah I. Shah I. J Pediatr Intensive Care. 2017 Sep;6(3):206-208. doi: 10.1055/s-0036-1596065. Epub 2016 Dec 1. J Pediatr Intensive Care. 2017. PMID: 31073449 Free PMC article.
Primary lactic acidemias represent a family of disorders of pyruvate metabolism or defects in the respiratory chain. However, lactic acidosis may also be seen in metabolic disorders such as organic acidemias, urea cycle defects, an …
Primary lactic acidemias represent a family of disorders of pyruvate metabolism or defects in the respiratory chain. Ho …
A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60.
Briones P, Vilaseca MA, Ribes A, Vernet A, Lluch M, Cusi V, Huckriede A, Agsteribbe E. Briones P, et al. J Inherit Metab Dis. 1997 Aug;20(4):569-77. doi: 10.1023/a:1005303008439. J Inherit Metab Dis. 1997. PMID: 9266394
Its deficiency has recently been described as the most likely primary cause of congenital lactic acidaemia with multiple mitochondrial enzyme deficiencies in a female patient. ...Death occurred at age 4.5 years. Biochemical findings included metabolic acid …
Its deficiency has recently been described as the most likely primary cause of congenital lactic acidaemia with multipl …
Organic aciduria in neonatal multiple carboxylase deficiency.
Sweetman L, Nyhan WL, Sakati NA, Ohlsson A, Mange MS, Boychuk RB, Kaye R. Sweetman L, et al. J Inherit Metab Dis. 1982;5(1):49-53. doi: 10.1007/BF01799754. J Inherit Metab Dis. 1982. PMID: 6820414
A Samoan patient and a Saudi-Arabian patient were found to have abnormalities in the pattern of organic acid metabolites characteristic of 3-methylcrotonylglycinuria, propionic acidaemia and lactic acidosis. ...The metabolic pattern is diagnostic of mu …
A Samoan patient and a Saudi-Arabian patient were found to have abnormalities in the pattern of organic acid metabolites characterist …