Neonatal Onset: Causes & Reasons

Possible Causes for Neonatal Onset

Two Cases of Neonatal Onset Type II Citrullinemia Diagnosed by Urine Organic Acids Based Newborn Screening. Y. Watanabe 1, 2, K. Tashiro 1, K. Aoki 1, T. Inokuchi 1, Y. [ashg.org]

Citrullinemia type 1 can present at any age with acute neonatal- or early-onset (28 days or earlier) hyperammonemic coma or late-onset (later than 28 days) disease manifestation [medlink.com]

CONCLUSION: In our study, consistent with the literature, a correlation was found between homozygous p.Gly390Arg mutation and the classic neonatal onset form. [ncbi.nlm.nih.gov]

Congenital Bile Acid Synthesis Defect Type 2

Heritability: Autosomal recessive inheritance Clinical Modifiers: Neonatal onset AKA: BASD2, congenital bile acid synthesis defect type 2, AKR1D1 congenital bile acid synthesis [monarchinitiative.org]

Clinical Features Congenital bile acid synthesis defect type 2 (CBAS2) is a progressive liver disease of neonatal onset characterized by cholestasis (Lemonde et al. 2003; [preventiongenetics.com]

OMIM : 56 Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice [malacards.org]

18-Hydroxylase Deficiency

onset ; Renal salt wasting ; Vomiting Associated Genes CYP11B2 (Withdrawn symbols: ALDOS, CPN2, CYP11B, CYP11BL, P-450C18, P450aldo ) Mouse Orthologs Cyp11b1 (Withdrawn symbols [mousephenotype.org]

onset 0003623 Recurrent fever Episodic fever Increased body temperature, episodic Intermittent fever [ more ] 0001954 Renal salt wasting Loss of salt in urine 0000127 Vomiting [rarediseases.info.nih.gov]

[…] symptoms Patients with Fever and Vomiting. may also develop some of the following symptoms: Uncommon Symptoms - Between 30% and 50% cases Failure to thrive Hepatomegaly Neonatal [mendelian.co]

Infantile-Onset Pompe Disease

The timely needs for infantile onset Pompe disease newborn screening-practice in Taiwan. Int J Neonatal Screen. 2020;6:30. doi: 10.3390/ijns6020030. [ncbi.nlm.nih.gov]

Infantile-onset Pompe disease with neonatal debut: A case report and literature review. Med (Baltim) 2017;96:e9186. doi: 10.1097/MD.0000000000009186. [ncbi.nlm.nih.gov]

Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency

Congenital adrenal hyperplasia: an endocrine disorder with neonatal onset. Crit Care Nurs Clin North Am. 2009;21:195–212. 2. New M, Ghizzoni L, Lin-Su K. [revistas.fucsalud.edu.co]

Enteric Anendocrinosis

Table 1 The clinical characteristics of four patients with neonatal-onset watery diarrhea Full size table Table 2 Pathology assessment of four patients with neonatal-onset [ojrd.biomedcentral.com]

Interestingly, the patients did not develop neonatal diabetes but childhood-onset diabetes. [go.gale.com]

The onset of neonatal diarrhea may rapidly lead to life threatening dehydration and malnutrition. [wjgnet.com]

Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency

neonatal/infancy Average age of death: normal Type of inheritance: mitochondrial inheritance External references: 1 OMIM reference - No MeSH references No signs/symptoms [csbg.cnb.csic.es]

[…] from neonatal life to early childhood Symptoms and signs depend on size of fatty acid involved Acyl CoA Dehydrogenases Deficiencies Medium chain fatty acid: Sudden infant [neurodiffdx.com]

Neonatal or early infantile disease onset is often associated with severe progressive encephalomyopathy, with multi-organ involvement such as cardiomyopathy, hepatopathy, [mdpi.com]

3Beta-Hydroxy-Delta5-C27-Steroid Oxidoreductase Deficiency

OMIM : 57 Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice [malacards.org]

Genes Tested: ABCD3, AKR1D1, AMACR, CYP7B1, HSD3B7 Description Congenital bile acid synthesis defect is an autosomal recessive condition associated with neonatal onset liver [cincinnatichildrens.org]

OMIM : 56 Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice [malacards.org]

Mitochondrial DNA Depletion Syndrome Type 3 Hepatocerebral

The typical phenotype associated with mutations in DGUOK is neonatal onset of progressive liver disease and feeding difficulties, usually associated with hypotonia, nystagmus [ijponline.biomedcentral.com]

(neonatal or infantile), multi-organ presentation, and mortality during infancy. [5] Hepatopathic form [ edit ] DGUOK, POLG, and MPV17 related forms result in defects to [mashpedia.com]

[…] resulting protein has some residual enzyme activity. [2] RRM2B mutations have been reported in 16 infants with severe encephalomyopathic MDS that is associated with early-onset [mashpedia.com]

Sepsis in Premature Infants

Neonatal sepsis is classified as early-onset and late-onset. [scielo.br]

[…] contributes substantially to neonatal morbidity and mortality, and is an ongoing major global public health challenge. 1 According to the onset of age, neonatal sepsis is [fn.bmj.com]

TABLE 1 Invasive early-onset a neonatal sepsis cases and deaths, Active Bacterial Core Surveillance Program, 2005 to 2008 b Organisms causing early-onset neonatal sepsis are [cmr.asm.org]

Umbilical Sepsis

SETTING Evaluation of umbilical cord IL-6 and funisitis as predictors of early-onset neonatal sepsis in PPROM. [semanticscholar.org]

Early-onset neonatal sepsis. Clin. Microbiol. Rev. 27, 21–47 (2014). Article PubMed PubMed Central Google Scholar Stoll, B. J. et al. [nature.com]

Neonatal sepsis in the neonatal intensive care unit: characteristics of early versus late onset. J Microbiol Immunol Infect. 2004;37:301-6. [ijpediatrics.com]

Cryopyrin-Associated Periodic Syndrome

These data define the clinical and molecular phenotype of neonatal-onset multisystem inflammatory disease as induced by interleukin-1β excess. [doi.org]

The lack of a confirmed genetic mutation does not preclude the diagnosis of CAPS because 40% of patients who have neonatal-onset multisystem autoinflammatory disease, 25% [merckmanuals.com]

Clinical and epidemiological research A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory disease Cailin H Sibley 1, Andrea Chioato 2, Sandra [doi.org]

Neonatal Infection

neonatal infection and Table 2 below to identify clinical indicators of early-onset neonatal infection. [web.archive.org]

In all, 4.3% of the newborns had an early-onset neonatal infection and 5.3% of the women had clinical chorioamnionitis. [ncbi.nlm.nih.gov]

Our results indicate that sRAGE could be a good potential biomarker of late-onset neonatal infection and sepsis (Tab. 2, Ref. 14). [ncbi.nlm.nih.gov]

Acute Hepatic Porphyria

April 09, 2019; 92 (15 Supplement) May 7, 2019, Sean R. Rudnick, Madeline Merkel, John J. Ko, Barbara H. Johnson, Virginia Noxon, Ashley L. Cole, Sonalee Agarwal First published April 16, 2019, Abstract Objective: This study’s objective was to follow AHP/AIP patients’ healthcare journeys from first suspected symptom to[…] [n.neurology.org]

Wolcott-Rallison Syndrome

WRS should be differentiated from other forms of neonatal/early-onset insulin-dependent diabetes based on clinical presentation and genetic testing. [typeset.io]

Wolcott-Rallison syndrome (WRS) is an autosomal recessive disease, characterized by neonatal or early-onset non-autoimmune insulin-dependent diabetes. [squ.pure.elsevier.com]

It is characterized by neonatal/ early onset non-autoimmune insulin dependent diabetes (permanent neonatal diabetes mellitus-PNDM) associated with spondyloepiphyseal dysplasia [sljm.sljol.info]

Neonatal Sepsis

Sepses, Neonatal — Late-Onset Sepsis, Neonatal — Neonatal Late Onset Sepsis — Neonatal Late-Onset Sepses — Sepses, Neonatal Late-Onset — Sepsis, Neonatal Late-Onset — Neonatal [mesh.kib.ki.se]

Escherichia coli: a growing problem in early onset neonatal sepsis. Aust N Z J Obstet Gynaecol 2004;44(6):558-61. 4. [imj.ie]

Mishra UK, Jacobs SE, Doyle LW, Garland SM (2006) Newer approaches to the diagnosis of early onset neonatal sepsis. Arch Dis Child Fetal Neonatal Ed 91: F208-212. [omicsonline.org]

Familial Cold Autoinflammatory Syndrome Type 1

“Neonatal onset multisystem inflammatory disease responsive to interleukin-1beta inhibition”. N Engl J Med. vol. 355. 2006. pp. 581-92. [dermatologyadvisor.com]

Finally, neonatal onset multisystem inflammatory disease (NOMID; also called chronic infantile neurological, cutaneous, and articular syndrome, CINCA [Prieur et al. 1987]) [centrallakesclinic.biz]

The lack of a confirmed genetic mutation does not preclude the diagnosis of CAPS because 40% of patients who have neonatal-onset multisystem autoinflammatory disease, 25% [merckmanuals.com]

Nephrotic Syndrome Type 8

and neurologic disorder SCO1 Hepatic venoocclusive disease with immunodeficiency SP110 Hyperaldosteronism type 3 KCNJ5 Hyperbilirubinemia, familial transient neonatal UGT1A1 [centogene.com]

[…] uremic syndrome CFHR5 Hemolytic uremic syndrome CFI Hemolytic uremic syndrome THBD Hemolytic uremic syndrome, atypical type 2, susceptibility to CD46 Hepatic failure, early onset [centogene.com]

Muckle-Wells Syndrome

Neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic, cutaneous, and articular syndrome is an autoinflammatory disease characterized by urticarial [ncbi.nlm.nih.gov]

Salford Royal NHS Foundation Trust, Manchester, UK. vishalmadan@doctors.org.uk Abstract We describe a patient with overlapping clinical features of Muckle-Wells syndrome and neonatal-onset [ncbi.nlm.nih.gov]

The severe ocular manifestations of the most severe CAPS phenotype, Chronic Infantile Neurological Cutaneous and Articular Syndrome /Neonatal Onset Multisystem Inflammatory [science.gov]

CINCA Syndrome

Neonatal onset multisystem inflammatory disease. Genetics Home Reference. [rarediseases.org]

Multisystem Inflammatory Disease; IOMID; NOMID; Multisystem inflammatory disease, neonatal-onset; Prieur Griscelli syndrome See More Categories: Neonatal onset multisystem [rarediseases.info.nih.gov]

Neonatal-onset multisystem inflammatory disorder. Archives of Dermatology. 2005;141:248-253. Lovell D J, et al. [rarediseases.org]

Adult-Onset Citrullinemia Type 2

Cycle Disorders, Inborn ← Citrullinemia ← Neonatal-onset citrullinemia type 2 4. [ctdbase.org]

Type II, Neonatal-Onset Neonatal intrahepatic cholestasis caused by citrin deficiency NICCD Neonatal-onset citrullinemia type II Cholestasis, Neonatal Intrahepatic, caused [bioportal.bioontology.org]

Official abbreviation NICCD Name citrullinemia, type II, neonatal-onset (neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)) OMIM ID 605814 Human Phenotype [databases.lovd.nl]

Multiple Carboxylase Deficiency

Abstract Biotin-responsive multiple carboxylase deficiency can be categorized by clinical criteria into a neonatal-onset disorder and distinct syndrome of infantile onset. [ncbi.nlm.nih.gov]

(propionyl-CoA-carboxylase) ligase deficiency (disorder) Multiple carboxylase deficiency - neonatal onset (disorder) Multiple carboxylase deficiency - neonatal onset Biotin [wikidata.org]

[…] the neonatal-onset form. [ncbi.nlm.nih.gov]

Neonatal Meningitis

OBJECTIVES: To study the epidemiology of early onset neonatal bacterial meningitis (EONBM) in Australasia. [ncbi.nlm.nih.gov]

Neonatal—onset up to 4 days of age First choice: ampicillin 25 mg/kg IV every 8 hours plus cefotaxime (Claforan) 50 mg/kg IV every 12 hours Alternative: ampicillin 25 mg/kg [calsprogram.org]

We report the case of a late-onset neonatal meningitis by Streptococcus agalactiae (group B Streptococcus - GBS) that was diagnosed with a latex agglutination assay (on cerebrospinal [ncbi.nlm.nih.gov]

Congenital Isolated ACTH Deficiency

We previously demonstrated that human and micemutations of the highly cortico/melanotroph specific transcription factor gene Tpitcause a neonatal onset form of congenital [documents.tips]

RESULTS: We described the largest series of 91 IAD patients and identified three distinct groups: neonatal onset complete or partial IAD or late onset IAD. [ncbi.nlm.nih.gov]

Onset may occur in the neonatal period, but often is first observed in later childhood. [endocrine-abstracts.org]

Glutaric Aciduria Type 2

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B. [uniprot.org]

The results were promising for the late-onset disease. Intravenous carnitine gave rewarding results in one patient with neonatal-onset disease. [nature.com]

Characteristic phenotypes include the neonatal-onset (lethal) form with congenital abnormalities (type I), the neonatal-onset form with hypoketotic hypoglycemia without congenital [medlink.com]

Severe Neonatal-Onset Encephalopathy with Microcephaly

Severe neonatal-onset encephalopathy with microcephaly is an x-linked recessive disorder caused by mutations of the MECP2 gene. b' ' Systematic References: 1. [moldiag.com]

susceptibility to, X-linked 3 Angelman syndrome Severe neonatal-onset encephalopathy with microcephaly Mental retardation, X-linked, syndromic 13 Reversed 1 HGVS NC_000023.10 [snpedia.com]

Severe neonatal onset encephalopathy with microcephaly in males 3. MECP2 duplication syndrome 4. [iamg.in]

Ornithine Transcarbamylase Deficiency

A retrospective analysis of 74 cases of neonatal-onset ornithine transcarbamylase (OTC) deficiency. [ncbi.nlm.nih.gov]

This neonatal-onset form of the disorder usually affects males; it is very rare in females. [ghr.nlm.nih.gov]

Some late onset patients that underwent LT, showed an activity that was as low as that observed in the neonatal onset cases. [ncbi.nlm.nih.gov]

Propionic Acidemia

We report a child with neonatal-onset propionic acidemia treated with living-related liver transplantation. [ncbi.nlm.nih.gov]

Neonatal-onset propionic acidemia: Neurologic and developmental profiles and implications for management. [revistabiomedica.org]

Clinical description Propionic acidemia can present in one of the following forms: severe neonatal onset, intermittent late onset or a chronic progressive form. [orpha.net]

Carbamoyl Phosphate Synthetase Deficiency

[4] Severe hyperammonemia and severe clinical manifestations are common in neonatal-onset CPS1D. [1] Neonatal-onset patients are often born normally. [journals.lww.com]

neonatal onset UCDs, depending on their underlying defect [ 27 ]. [ojrd.biomedcentral.com]

The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. [icd9data.com]

Argininosuccinic Aciduria

The clinical presentation is variable, and there are two main forms: Neonatal onset: Within the first days of life, babies with neonatal onset argininosuccinic aciduria experience [sema4.com]

The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. [icd9data.com]

Two clinical forms of argininosuccinic aciduria exist: an acute, potentially lethal, neonatal onset disease and a milder, late‐onset form. [els.net]