scholarly journals Pregnancy-related Type Citrullinemia Type 1: an Analysis of 14 Cases and Review of the Literature

2021 ◽  
Author(s):  
Jiapo Li ◽  
Liyang Zhang ◽  
Ruochen Wang ◽  
Fan Li ◽  
Maryam F. Abdelrahim ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Urea Cycle ◽  
Clinical Manifestations ◽  
Urea Cycle Disorder ◽  
Adult Onset ◽  
Review Of The Literature ◽  
Genetic Characteristics ◽  
Argininosuccinate Synthase ◽  
The Relationship

Abstract Citrullinemia type 1 (CTLN1) is a rare autosomal recessive urea cycle disorder, without functional argininosuccinate synthase (ASS) enzyme, mostly occurring in newborns and infants, but it has been reported having an adult-onset in carriers of the pathogenic gene, and even more rarely, the onset of the disease is pregnancy related. The diagnosis and management process of pregnancy-related type citrullinemia 1 was found very challenging in the clinical practice. Citrullinemia type 1 was, often seen in newborns with a worldwide prevalence of 1:44,300-250,000, characterized by hyperammonemia and elevated citrulline levels in blood and urine as clinical features. Since 1980, only 14 cases with onset during pregnancy and puerperium have been reported. This review provides an overview of the relationship between Citrullinemia type 1 and pregnancy and discusses the mechanisms, clinical manifestations and genetic characteristics of pregnancy-related onset.

scholarly journals Recurrent Encephalopathy: NAGS (N-Acetylglutamate Synthase) Deficiency in Adults

2013 ◽  
Vol 40 (1) ◽  
pp. 3-9 ◽  
Author(s):  
A. Cartagena ◽  
A.N. Prasad ◽  
C.A. Rupar ◽  
M. Strong ◽  
M. Tuchman ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Clinical Presentation ◽  
Urea Cycle ◽  
Neuropsychiatric Symptoms ◽  
Glutamate Synthase ◽  
Illustrative Case ◽  
Adult Onset ◽  
Treatment Regimens ◽  
Life Saving ◽  
Acetylglutamate Synthase

Abstract:N-acetyl-glutamate synthase (NAGS) deficiency is a rare autosomal recessive urea cycle disorder (UCD) that uncommonly presents in adulthood. Adult presentations of UCDs include; confusional episodes, neuropsychiatric symptoms and encephalopathy. To date, there have been no detailed neurological descriptions of an adult onset presentation of NAGS deficiency. In this review we examine the clinical presentation and management of UCDs with an emphasis on NAGS deficiency. An illustrative case is provided. Plasma ammonia levels should be measured in all adult patients with unexplained encephalopathy, as treatment can be potentially life-saving. Availability of N-carbamylglutamate (NCG; carglumic acid) has made protein restriction largely unnecessary in treatment regimens currently employed. Genetic counselling remains an essential component of management of NAGS.

scholarly journals Clinical and Demographic Features among Patients with Type 1 Diabetes Mellitus in Henan, China

2021 ◽  
Author(s):  
Liguo Yang ◽  
Guangxing Yang ◽  
Xialian Li
Keyword(s):  
Type 1 Diabetes ◽  
Islet Cell ◽  
Blood Glucose Control ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Overweight And Obesity ◽  
Adult Onset ◽  
Young Onset ◽  
Onset Group

Abstract BackgroundThe hallmark of type 1 diabetes (T1D) is the failure of islet cell. However, many studies showed a tendency to heterogeneity in TID. We aimed to investigate the demographic and clinical characteristics in T1D and the differences in young-onset and adult-onset patients.MethodsThis retrospective study was conducted among 1917 patients with T1D. Medical records on patients’ demographics, anthropometric measurements, and clinical manifestation were collected. According to the age at onset, it was divided into the young-onset group (<18 years, 234 patients, mean age 11 years) and adult-onset group (≥18 years, 219 patients, mean age 27 years). ResultsThe median age of patients at disease onset was 22 yd. The median duration of patients was 3 years. The overall median HbA1c value was 10.3%. Seventeen percent of patients were overweight or obesity. The frequency of overall dyslipidemia was 37.8%. The most frequent dyslipidemia was low high-density lipoprotein-cholesterol (HDL) (29%). The proportion of patients with anti-glutamic acid decarboxylase (GADA), insulin antibody (IAA) and islet cell antibody (ICA) were 28.0%, 6.4% and 21.6%, respectively. Compared with young-onset T1D, adult-onset patients comprised better islet function and glycemic control, higher prevalence of diabetes condition in the male gender (64.4% VS. 51.3%), higher proportion of obesity or overweight (24.6% VS. 9.5%), higher frequency of GADA (33.7% VS. 23.3%), and lower frequency of HDL (8.8% VS. 16.6%). Increasing or decreasing trends of overweight and obesity in this population during the period 2012 to 2018 was not found.ConclusionThis population was characterized by poor overall blood glucose control, high prevalence of dyslipidemia and low prevalence of GADA, IAA, ICA. Adult-onset patients with T1D are not uncommon and have better clinical manifestations than young-onset patients.

Adult Onset Urea Cycle Disorder in a Patient With Presumed Hepatic Encephalopathy

2008 ◽  
Vol 42 (2) ◽  
pp. 213-214 ◽  
Author(s):  
Muslim Atiq ◽  
Andrew F. Holt ◽  
Kamran Safdar ◽  
Frederick Weber ◽  
Ravi Ravinuthala ◽  
...  
Keyword(s):  
Hepatic Encephalopathy ◽  
Urea Cycle ◽  
Urea Cycle Disorder ◽  
Adult Onset

Corrigendum to “Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs” [Biochem. Biophys. Res. Commun. 486(3) (2017) 613–619]

2017 ◽  
Vol 488 (3) ◽  
pp. 570-571 ◽  
Author(s):  
Elena Yukie Yoshitoshi-Uebayashi ◽  
Taro Toyoda ◽  
Katsutaro Yasuda ◽  
Maki Kotaka ◽  
Keiko Nomoto ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Urea Cycle Disorder ◽  
Disease Specific

scholarly journals Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Qing-Qing Tao ◽  
Yun Zhang ◽  
Hui-Xia Lin ◽  
Hai-Lin Dong ◽  
Wang Ni ◽  
...  
Keyword(s):  
Chinese Population ◽  
Autosomal Recessive ◽  
Storage Disease ◽  
Clinical Manifestations ◽  
Cerebrotendinous Xanthomatosis ◽  
Chinese Patients ◽  
Lipid Storage Disease ◽  
Genetic Characteristics ◽  
Pathogenic Mutations ◽  
Autosomal Recessive Pattern

Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27A1) gene with an autosomal recessive pattern of inheritance. To date, only 19 CTX patients from 16 families have been reported in the Chinese population. Results Three novel likely pathogenic mutations (c.368_374delCCAGTAC, c.389 T > A and c.571C > T) and 7 previously reported pathogenic mutations (c.379C > T, c.435G > T, c.1016C > T, c.1214G > A, c.1263 + 1G > A, c.1420C > T and c.1435C > T) were identified. In addition, we summarized the genotypes and phenotypes of reported Chinese CTX patients. The most predominant mutations in CYP27A1 were c.410G > A and c.379C > T, and the most common clinical manifestations were pyramidal signs, xanthomatosis, cerebellar ataxia, and cognitive impairment. Conclusion Our study broadens the genetic and clinical spectrum of CTX and provides insightful information to help better diagnose and understand the disease.

Plexiform schwannoma of the cheek

1999 ◽  
Vol 113 (11) ◽  
pp. 1034-1035 ◽  
Author(s):  
Giacinto M. Mannarà ◽  
Filippo C. La Rosa ◽  
Filippo Marino
Keyword(s):  
Plexiform Neurofibroma ◽  
Malignant Degeneration ◽  
Review Of The Literature ◽  
Nerve Sheath Tumour ◽  
Plexiform Schwannoma ◽  
Nerve Sheath ◽  
Type 1 Neurofibromatosis ◽  
The Relationship ◽  
Peripheral Nerve Sheath Tumour

AbstractWe present a case of subcutaneous plexiform schwannoma, a rare benign peripheral nerve sheath tumour characterized by a multinodular and plexiform growth pattern. A review of the literature was performed to identify the relationship between plexiform schwannoma and neurofibromatosis types 1 and 2, and schwannomatosis.It is also important to distinguish plexiform schwannoma from plexiform neurofibroma, a particular type 1 neurofibromatosis lesion, because of the propensity of the latter for malignant degeneration.

Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency

2021 ◽  
Vol 14 (3) ◽  
pp. e241032
Author(s):  
Krystyna Ediger ◽  
Anne Hicks ◽  
Komudi Siriwardena ◽  
Chloe Joynt
Keyword(s):  
Pulmonary Hypertension ◽  
Respiratory Distress ◽  
Congenital Hypothyroidism ◽  
Autosomal Recessive ◽  
Urea Cycle ◽  
Urea Cycle Disorder ◽  
Argininosuccinate Lyase ◽  
Severe Respiratory Distress ◽  
Lyase Deficiency ◽  
Neonatal Onset

Argininosuccinate lyase (ASL) deficiency is a rare autosomal recessive urea cycle disorder. The severe neonatal-onset form is characterised by hyperammonaemia in the first days of life and manifests with a variety of severe symptoms. However, an index of suspicion for additional or alternative diagnoses must be maintained when the patient’s presentation is out of keeping with expected manifestations and course. We present a case of a neonate with ASL deficiency and concomitant hypotonia, severe respiratory distress, pulmonary hypertension, systemic hypotension and congenital hypothyroidism. The patient was investigated and subsequently diagnosed with brain-lung-thyroid syndrome, caused by a mutation in the NKX2-1 gene.

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