keyword
MENU ▼
Read by QxMD icon Read
search

ketoacidotic maternal

keyword
https://www.readbyqxmd.com/read/11013136/mutations-of-the-sco1-gene-in-mitochondrial-cytochrome-c-oxidase-deficiency-with-neonatal-onset-hepatic-failure-and-encephalopathy
#1
I Valnot, S Osmond, N Gigarel, B Mehaye, J Amiel, V Cormier-Daire, A Munnich, J P Bonnefont, P Rustin, A Rötig
Cytochrome c oxidase (COX) catalyzes both electron transfer from cytochrome c to molecular oxygen and the concomitant vectorial proton pumping across the inner mitochondrial membrane. Studying a large family with multiple cases of neonatal ketoacidotic comas and isolated COX deficiency, we have mapped the disease locus to chromosome 17p13.1, in a region encompassing two candidate genes involved in COX assembly-namely, SCO1 and COX10. Mutation screening revealed compound heterozygosity for SCO1 gene mutations in the patients...
November 2000: American Journal of Human Genetics
https://www.readbyqxmd.com/read/2014791/autosomal-dominant-deletions-of-the-mitochondrial-genome-in-a-case-of-progressive-encephalomyopathy
#2
V Cormier, A Rotig, M Tardieu, M Colonna, J M Saudubray, A Munnich
Multiple deletions of the mitochondrial genome were found in a family in which the proband had ataxia and ketoacidotic comas. A progressive multiorgan involvement appeared in the course of the disease, and histopathological investigation demonstrated mitochondrial myopathy features with ragged red fibers. A defect of oxidative phosphorylation was found in both skeletal muscle and lymphocytes. It is surprising that various mtDNA deletions were detected both in the proband and in his healthy mother and maternal aunt but not in the rest of the maternal progeny...
April 1991: American Journal of Human Genetics
https://www.readbyqxmd.com/read/1852536/accumulation-of-odd-numbered-long-chain-fatty-acids-in-fetuses-and-neonates-with-inherited-disorders-of-propionate-metabolism
#3
U Wendel, R Baumgartner, S B van der Meer, L J Spaapen
Fetuses affected with propionic acidemia incorporate great amounts of odd-numbered long-chain fatty acids (OLCFA) into their body lipids. This is due to abundant supply with precursor amino acids of propionyl-CoA throughout pregnancy. After birth, the lower provision of precursor amino acids during dietary treatment compared with fetal life results in a decline of propionyl-CoA production and therefore OLCFA synthesis. However, the observed decrease of OLCFA may also partly reflect the recovery from acute ketoacidotic episodes that the patients experienced soon after birth as long as they were undiagnosed...
April 1991: Pediatric Research
1
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"