Carrier Rate of Citrullinemia, Type I in Individual Ethnic Groups Using an Expanded Carrier Test

Context: Ethnic groups differ in fragility fracture risk and bone metabolism. Differences in diurnal rhythms (DRs) of bone turnover and PTH may play a role. Objective: We investigated the DRs of plasma bone turnover markers (BTMs), PTH, and 1,25(OH)2D in three groups with pronounced differences in bone metabolism and plasma PTH. Participants: Healthy Gambian, Chinese, and white British adults (ages 60–75 years; 30 per country). Interventions: Observational study with sample collection every 4 hours for 24 hours. Main Outcomes: Levels of plasma C-terminal telopeptide of type I collagen, procollagen type-1 N-propeptide, N-mid osteocalcin, bone alkaline phosphatase, PTH, and 1,25-dihydroxyvitamin D were measured. DRs were analyzed with random-effects Fourier regression and cross-correlation and regression analyses to assess associations between DRs and fasting and 24-hour means of BTMs and PTH. Results: Concentrations of BTMs, PTH, and 1,25-dihydroxyvitamin D were higher in Gambians compared to other groups (P < .05). The DRs were significant for all variables and groups (P < .03) and were unimodal, with a nocturnal peak and a daytime nadir for BTMs, whereas PTH had two peaks. The DRs of BTMs and PTH were significantly cross-correlated for all groups (P < .05). There was a significant positive association between C-terminal telopeptide of type I collagen and PTH in the British and Gambian groups (P = .03), but not the Chinese group. Conclusions: Despite ethnic differences in plasma BTMs and PTH, DRs were similar. This indicates that alteration of rhythmicity and loss of coupling of bone resorption and formation associated with an elevated PTH in other studies may not uniformly occur across different populations and needs to be considered in the interpretation of PTH as a risk factor of increased bone loss.

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Citrullinemia Type I - A Case Report

Journal of Bangladesh College of Physicians and Surgeons ◽

10.3329/jbcps.v33i2.28044 ◽

2016 ◽

Vol 33 (2) ◽

pp. 98-100

Author(s):

Fauzia Mohsin ◽

Sharmin Mahbuba ◽

Tahmina Begum ◽

Narayan Chandra Saha ◽

Kishwar Azad ◽

...

Keyword(s):

Urea Cycle ◽

Female Child ◽

Amino Acid Profile ◽

Dramatic Improvement ◽

Type I ◽

Frequent Vomiting ◽

Cycle Disorders ◽

One Year ◽

High Level ◽

Citrullinemia Type I

Citrullinemia type I (CTLN1) is an inherited urea cycle disorder where the enzyme argininosuccinate synthetase is deficient. It can lead to recurrent hyperammonemic crisis that may result in permanent neurological sequelae, even death. Vomiting in patients with urea cycle disorders may either be the result or cause of acute hyperammonemia, particularly if due to an illness that leads to catabolism. Therefore, age-appropriate common etiologies of vomiting must be considered when evaluating these patients. We present a case of a 2 year 5 month old female child with CTLN1 who had a history of frequent vomiting after the age of one year and some recent neurological manifestations like excessive crying and lethargy and one episode of unconsciousness. Investigations revealed high level of ammonia. Amino acid profile using tandem mass spectrometry showed markedly increased plasma level of citrulline. After administration of sodium benzoate and protein restricted diet there was dramatic improvement of all the symptoms.J Bangladesh Coll Phys Surg 2015; 33(2): 98-100

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Acute neonatal citrullinemia type I

10.32388/sp5eqj ◽

2020 ◽

Author(s):

Keyword(s):

Type I ◽

Citrullinemia Type I

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Adult-onset citrullinemia type I

10.32388/cchqbo ◽

2020 ◽

Author(s):

Keyword(s):

Type I ◽

Adult Onset ◽

Citrullinemia Type I

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Efficacy of peritoneal dialysis on encephalopathic patient with Citrullinemia type I

QJM ◽

10.1093/qjmed/hcab096 ◽

2021 ◽

Vol 114 (Supplement_1) ◽

Author(s):

Radwa Gamal ◽

Ola A Khalifa

Keyword(s):

Peritoneal Dialysis ◽

Late Onset ◽

Ammonia Concentration ◽

Type I ◽

Inadequate Response ◽

Plasma Ammonia ◽

Hyperammonemic Encephalopathy ◽

Conscious Level ◽

Classic Form ◽

Citrullinemia Type I

Abstract Citrullinemia type I (CTLN1) clinical spectrum includes an acute neonatal form ("classic" form) and a milder late-onset form (“non-classic" form). Infants with classic form appear normal at birth. Shortly thereafter, they experienced hyperammonemia and develops symptoms. Without prompt intervention, rapid neurological deterioration with seizures, spasticity, loss of consciousness and even death can occur. Continuous venovenous hemofiltration should be started in neonates and children with ammonia levels > 500 µmol/L or even at lower levels if there has been an inadequate response to medical management after 4 hours. Alternatively, but only in centers that lack ability or expertise to perform extracorporeal therapy, peritoneal dialysis can be utilized. The hallmarks of dialysis is rapid lowering of plasma ammonia concentration to avoid neurotoxicity and irreversible brain damage. Objectives To evaluate the effect of peritoneal dialysis on plasma ammonia levels and the clinical outcome in an encephalopathic Egyptian patient with CTLN1. Patient and Methods A 2.5 year old male patient with a classical form of CTLN1was recruited. The first presenting symptom of the patient was poor suckling and disturbed conscious level at the age of 5 day. He was admitted to neonatal intensive-care unit (NICU) with hyperammonemic encephalopathy and abnormal pattern of breathing. He developed apneic attack and underwent mechanical ventilation. The diagnosis of CTLN1 was established with elevated plasma ammonia concentration (350 µmol/L) and plasma citrulline concentration (2570 µmol/L). The patient was managed with peritoneal dialysis for 4 days, together with protein restriction, sodium benzoate, arginine therapy and high caloric intake. Results Plasma ammonia level was decreased with improvement of general condition and conscious level after dialysis. Upon discharge from NICU, the patient was referred to our Genetic clinic and no history of further hospital admission since then. Mild developmental delay mainly cognitive was noted during his regular clinic follow up. Conclusion CTLN1 can present with hyperammonemic encephalopathy which could be lethal if not promptly managed. Peritoneal dialysis proved to be an effective therapy of reducing plasma ammonia rapidly and improving outcome of the patient.

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Citrullinemia Type I, Classical Variant. Identification of ASS∼p.G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: A possible population cluster

Clinical Biochemistry ◽

10.1016/j.clinbiochem.2009.03.024 ◽

2009 ◽

Vol 42 (10-11) ◽

pp. 1166-1168 ◽

Cited By ~ 7

Author(s):

Laura E. Laróvere ◽

Celia J. Angaroni ◽

Sandra L. Antonozzi ◽

Miriam B. Bezard ◽

Mariko Shimohama ◽

...

Keyword(s):

Geographic Area ◽

Type I ◽

Population Cluster ◽

Citrullinemia Type I ◽

Variant Identification

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COMPARATIVE TRENDS OF SEROPREVALENCE AND SEROINCIDENCE RATES OF HUMAN T CELL LYMPHOTROPIC VIRUS TYPE I AND HUMAN IMMUNODEFICIENCY VIRUS 1 IN PREGNANT WOMEN OF VARIOUS ETHNIC GROUPS SHARING THE SAME ENVIRONMENT IN FRENCH GUIANA

American Journal of Tropical Medicine and Hygiene ◽

10.4269/ajtmh.2005.73.560 ◽

2005 ◽

Vol 73 (3) ◽

pp. 560-565 ◽

Cited By ~ 15

Author(s):

PATRICIA TORTEVOYE ◽

CHRISTIAN PENEAU ◽

ANTOINE GESSAIN ◽

PHILIPPE TUPPIN ◽

GABRIEL CARLES

Keyword(s):

Human Immunodeficiency Virus ◽

T Cell ◽

Pregnant Women ◽

Ethnic Groups ◽

Virus Type ◽

French Guiana ◽

Type I ◽

Human T Cell ◽

Immunodeficiency Virus ◽

Human Immunodeficiency Virus 1

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Anesthetic Management of a Patient With Citrullinemia Type I During Dental Treatment

Anesthesia Progress ◽

10.2344/anpr-68-02-04 ◽

2021 ◽

Vol 68 (3) ◽

pp. 158-162

Author(s):

Makiko Shibuya ◽

Rie Iwamoto ◽

Yukifumi Kimura ◽

Nobuhito Kamekura DDS ◽

Toshiaki Fujisawa

Keyword(s):

Dental Treatment ◽

Genetic Disorder ◽

Anesthetic Management ◽

Third Molar ◽

Intravenous Sedation ◽

Type I ◽

Oral Medications ◽

Gag Reflex ◽

Serum Ammonia ◽

Citrullinemia Type I

We report a case involving intravenous sedation for third molar extractions in a 32-year-old man with citrullinemia type I (CTLN1), a genetic disorder that affects the urea cycle. The patient was diagnosed with CTLN1 after he exhibited seizures soon after birth and was intellectually disabled because of persistent hyperammonemia, although his recent serum ammonia levels were fairly well controlled. We planned to minimize his preoperative fasting, continue his routine oral medications, and monitor his serum ammonia levels at least twice. Sedation with midazolam and a propofol infusion was planned to suppress his gag reflex and reduce protein hypercatabolism due to stress. Epinephrine-containing local anesthetics, which enhance protein catabolism, were avoided, replaced by plain lidocaine for blocks and prilocaine with felypressin for infiltration anesthesia. No significant elevation in ammonia levels was observed. In patients with CTLN1, sedation can be useful for preventing hyperammonemia. Patients who develop symptomatic hyperammonemia may require urgent/emergent treatment involving other medical specialists. Therefore, preoperative endocrinology consultation, perioperative monitoring of serum ammonia levels, and preemptively coordinating for appropriate care in the event hyperammonemia occurs should all be considered.

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