Possible platelet contribution to pathogenesis of transient neonatal hyperammonaemia syndrome

Geet, Christel Van; Vermylen, J.; Vandenbossche, L; Eggermont, Ephrem; Devlieger, Hugo; Jaeken, Jaak

doi:10.1016/0140-6736(91)90736-9

Cited by 13 publications

(2 citation statements)

References 15 publications

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“…Interestingly, his intrahepatic haemangioma regressed spontaneously and the portocaval shunt closed, a course reported earlier [7,14]. Given these experiences and the normal closure dynamics of the ductus venosus [2,8], one wonders whether portosystemic venous shunting contributes to the pathogenesis of transient hyperammonaemia syndrome of the neonate [15]. Transient hypergalactosaemia of unknown cause in neonates has been reported [13].…”

Section: Discussionmentioning

confidence: 95%

Hypergalactosaemia in a newborn: self-limiting intrahepatic portosystemic venous shunt

Gitzelmann

Forster

Willi

1997

European Journal of Pediatrics

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Section: Discussionmentioning

confidence: 95%

Hypergalactosaemia in a newborn: self-limiting intrahepatic portosystemic venous shunt

Gitzelmann

Forster

Willi

1997

European Journal of Pediatrics

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“…[34] Urinary concentrations of β-thromboglobulin and 11-dehydrothromboxane B2 are much higher in THAN infants, indicating that transient platelet activation in the portal system can also lead to THAN. [35] Liver microcirculation is a unique vascular platform used to combat blood-borne infections. [36] When severe systemic infection occurs, platelets adherent to the liver vasculature actively migrate to scan their microenvironment for bacteria; hence, microvascular thrombosis is inevitable.…”

Section: Pathogenesis Of Thanmentioning

confidence: 99%

A glance at transient hyperammonemia of the newborn: Pathophysiology, diagnosis, and treatment: A review

Miao

Zhao

et al. 2022

Medicine

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Hyperammonemia is the excessive accumulation of ammonia in the blood, and is usually defined as a plasma level above 100 µmol/L in neonates or above 50 µmol/L in term infants, children, and adolescents. Patients with hyperammonemia usually experience life-threatening neuropsychiatric symptoms, especially newborns. It is routinely caused by inherited metabolic diseases and also by acquired disorders, such as liver failure, portosystemic shunting, gastrointestinal hemorrhage, ureterosigmoidostomy, renal tubular acidosis, hypoxic ischemic encephalopathy, infections with urea-metabolizing organisms, and some drugs. Transient hyperammonemia of the newborn (THAN) is a special type of hyperammonemia acknowledged in the field of metabolic disease as an inwell-defined or well-understood entity, which can be diagnosed only after the exclusion of genetic and acquired causes of hyperammonemia. Although the prognosis for THAN is good, timely identification and treatment are essential. Currently, THAN is underdiagnosed and much less is mentioned for early diagnosis and vigorous treatment. Herein, we present common themes that emerge from the pathogenesis, diagnosis, and management of THAN, based on current evidence. When a newborn presents with sepsis, intracranial hemorrhage, or asphyxia that cannot explain coma and seizures, doctors should always keep this disease in mind.

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Cerebrospinal fluid as a tool in the diagnosis of neurometabolic diseases: amino acid analysis before and after acid hydrolysis

Jaeken

1994

Eur J Pediatr

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We perform systematically amino acid analysis of the CSF before and after strong acid hydrolysis in children with unexplained neurological disease. By comparing the amino acid pattern before and after hydrolysis, defects can be traced in the metabolism not only of amino acids but also of purines, peptides, N-acetylated amino acids and peptides, and probably other compounds. This method has yielded important information such as the identification of two "new" diseases, GABA transaminase deficiency and adenylosuccinase deficiency, and the discovery of a peculiar, acid-labile double peak in the CSF of patients with the transient neonatal hyperammonaemia syndrome and with urea cycle defects. This substance was subsequently identified by others as gamma-glutamylglutamine. As a consequence, we strongly recommend incorporating of this approach in the investigation of all children with unclear neurological disease.

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Possible platelet contribution to pathogenesis of transient neonatal hyperammonaemia syndrome

Cited by 13 publications

References 15 publications

Hypergalactosaemia in a newborn: self-limiting intrahepatic portosystemic venous shunt

Hypergalactosaemia in a newborn: self-limiting intrahepatic portosystemic venous shunt

A glance at transient hyperammonemia of the newborn: Pathophysiology, diagnosis, and treatment: A review

Cerebrospinal fluid as a tool in the diagnosis of neurometabolic diseases: amino acid analysis before and after acid hydrolysis

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