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]

• 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]

  Wide nasal bridge MedGen UID: 341441 •Concept ID: C1849367 • Finding Progressive microcephaly MedGen UID: 340542 •Concept ID: C1850456 • Anatomical Abnormality Progressive microcephaly is diagnosed when the head circumference falls progressively behind [ncbi.nlm.nih.gov]

  Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions. [invitae.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]

• Death in Infancy

  […] in infancy Infantile death Lethal in infancy [ more ] 0001522 Dilated cardiomyopathy Stretched and thinned heart muscle 0001644 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Hypoketotic hypoglycemia 0001985 Hypsarrhythmia 0002521 [rarediseases.info.nih.gov]

• Failure to Thrive

  […] to thrive Faltering weight Weight faltering [ more ] 0001508 Hypoketotic hypoglycemia 0001985 Hypsarrhythmia 0002521 Postnatal microcephaly 0005484 Seizure 0001250 Sparse and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes [rarediseases.info.nih.gov]

  Feeding difficulties leading to failure to thrive are also common. Failure to thrive is defined as the failure to grow and gain weight as would be expected based upon age and gender. [rarediseases.org]

  Failure to thrive in infancy MedGen UID: 358083 •Concept ID: C1867873 • Finding Midface retrusion MedGen UID: 388629 •Concept ID: C2673410 • Finding Abnormal isoelectric focusing of serum transferrin MedGen UID: 413671 •Concept ID: C2749688 • Finding [ncbi.nlm.nih.gov]

  […] to thrive, psychomotor retardation, hypotonia, erythematous skin changes Dysmorphic features, skeletal dysplasia, mental and motor retardation, myopathy Cerebral thrombosis, dilated cardiomyopathy Refractory epilepsy with polymorphic seizures, hepatomegaly [academic.oup.com]

  The neonate had transient feeding problems and failure to thrive. At the age of 6 months, she had a normal stature (69 cm: −1.5 SD) but low body weight (6.9 kg: −2 SD) and mild microcephaly (−2 SD). [nature.com]

• Muscle Hypotonia

  Developmental delay can be observed in the majority of the children, partially due to muscle hypotonia and to some degree hyperflexible joints. [nature.com]

  Patients often present with a highly variable multisystem phenotype, including neurological symptoms such as psychomotor retardation, muscle hypotonia, seizures, liver and kidney symptoms, endocrine and coagulation abnormalities and variable dysmorphic [academic.oup.com]

• Dry Skin

  skin 0000958 Ichthyosis 0008064 Lipoatrophy Loss of fat tissue in localized area 0100578 30%-79% of people have these symptoms Abnormality of coagulation 0001928 Cerebral cortical atrophy Decrease in size of the outer layer of the brain due to loss of [rarediseases.info.nih.gov]

  She has a sensitive, dry skin but there is no apparent cutis laxa (Figure 1d and o). Her IQ is 76. [nature.com]

• Dry, Scaly Skin

  Other frequent signs and symptoms include recurrent seizures; developmental delay; poor muscle tone (hypotonia); and dry, scaly skin (ichthyosis). [malacards.org]

• 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]

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]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

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]

Standard Therapies Treatment The treatment of most forms of CDG is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

PMID: 16051600 Prognosis Foulquier F, Vasile E, Schollen E, Callewaert N, Raemaekers T, Quelhas D, Jaeken J, Mills P, Winchester B, Krieger M, Annaert W, Matthijs G Proc Natl Acad Sci U S A 2006 Mar 7;103(10):3764-9. [ncbi.nlm.nih.gov]

Etiology Quelhas D, Martins E, Azevedo L, Bandeira A, Diogo L, Garcia P, Sequeira S, Ferreira AC, Teles EL, Rodrigues E, Fortuna AM, Mendonça C, Fernandes HC, Medeira A, Gaspar A, Janeiro P, Oliveira A, Laranjeira F, Ribeiro I, Souche E, Race V, Keldermans [ncbi.nlm.nih.gov]

PIGS-associated early onset epileptic developmental encephalopathy. 61 Efthymiou S...Houlden H 33410539 2021 37 Deciphering the premature mortality in PIGA-CDG - An untold story. 61 Bayat A...Moller RS 33508693 2021 38 N-Glycan Modification in Covid-19 Pathophysiology [malacards.org]

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]

It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER. [ncbi.nlm.nih.gov]

In gene therapy, the defective gene present in a patient is replaced with a normal gene to enable the production of the active enzyme and prevent the development and progression of the disease. [rarediseases.org]

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]