Presentation
Both patients presented in the neonatal period with severe ichthyosis, unusual distal digital constrictions and dilated cardiomyopathy which resulted in death. [ncbi.nlm.nih.gov]
[…] ichthyosis due to dolichol phosphate deficiency Prevalence: 1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: E77.8 OMIM: 610768 UMLS: C1835849 MeSH: - GARD: 12393 MedDRA: - The documents contained in this web site are presented [orpha.net]
c.2T C) was identified in two affected siblings born to consanguineous parents who presented with West syndrome that later developed into intellectual disability and, in one case, ASD (Helander et al., 2013). [gene.sfari.org]
Here, we describe 11 young patients (5–13 years) with a predominant presentation of dilated cardiomyopathy (DCM). [plos.figshare.com]
Entire Body System
-
Falling
11,25 15,00 Save 3,75 Add to basket 10% off Wasted Marya Hornbacher 24 Sep 1998 Paperback 11,49 12,90 Save 1,41 Add to basket 75% off Our Kind of People Uzodinma Iweala 05 Jul 2012 Paperback 6,50 26,56 Save 20,06 Add to basket Spirit Catches You and You Fall [bookdepository.com]
MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines. [mybiosource.com]
-
Anorexia
Save 1,51 Add to basket 22% off Somebody I Used to Know Wendy Mitchell 07 Mar 2019 Paperback 8,89 11,50 Save 2,61 Add to basket The Hacking of the American Mind Robert H Lustig 18 Sep 2018 Paperback 16,50 17,00 Save 0,50 Add to basket 13% off Feeding Anorexia [bookdepository.com]
Gastrointestinal
-
Failure to Thrive
Because of a failure to thrive, the younger child received nasogastric feeding. Her early childhood was complicated by recurrent infections. Severe epilepsy started in the girl at the age of 5 weeks, and in her brother at the age of 6 months. [jci.org]
Skin
-
Dry, Scaly Skin
Other frequent signs and symptoms include recurrent seizures; developmental delay; poor muscle tone (hypotonia); and dry, scaly skin (ichthyosis). [malacards.org]
Psychiatrical
-
Suggestibility
Histology of the skin showed lipid droplet accumulation in the stratum corneum and keratinocytes, which suggests defective epidermal lipid metabolism. [ncbi.nlm.nih.gov]
[…] stress) may be a pathogenetic factor in the course of the disease, and suggests new therapeutic approaches in MKD. [nature.com]
These conditions suggested that accumulation of damaged mitochondria could be the trigger for NACHT, LRR and PYD domains-containing protein 3 (NALP3) inflammasome activation. [mdpi.com]
A very low flash electroretinogram suggested early retinopathy in the baby girl. Both children showed recurrent moderately elevated transaminases and creatine kinase, and signs of mild coagulopathy (Table 1). [jci.org]
Treatment
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
On-demand anakinra treatment is effective in mevalonate kinase deficiency. Ann. Rheum. Dis. 2011, 70, 2155–2158. [mdpi.com]
The brain tissue biochemical estimations showed significant decrease in TBARS, AChE and increase in glutathione level, on treatment with mefloquine in ICV amyloid beta treated rat. [micenavi.jp]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. [uniprot.org]
J Lipid Res 32: 935–940 10 Löw P, Andersson M, Edlund C, Dallner G 1992 Effects of mevinolin treatment on tissue dolichol and ubiquinone levels in the rat. [nature.com]
Pathophysiology
Our results provide further evidence that the pathophysiology of MKD involves alterations in sterol as well as in non-sterol isoprenoid biosynthesis. METHODS Cell culture. [nature.com]
Rheb is a critical regulator of autophagy during myocardial ischemia: Pathophysiological implications in obesity and metabolic syndrome. Circulation 2012, 125, 1134–1146. [mdpi.com]
Prevention
It is possible that homozygosity for the 274C G mutation may leave enough DolP-Man synthase activity to prevent a shortage of DolP-Man with pathological consequences. [jci.org]
The treatment caused a decrease in expression of anti-apoptotic protein Bcl-2 and an increase of pro-apoptotic protein such as Bax; the subsequent addition of GGPP prevented Lovastatin apoptosis, confirming a key role of prenylated proteins levels [39 [mdpi.com]