Non-ketotic hyperglycinaemia: case report and review of medical literature

Abstract

Rare inheritable conditions may present without warning in the neonatal period and thus lead curious staff to institute expansive clinical investigations. Non-ketotic hyperglycaemia (NKH) in a normal fully grown male infant following an essentially eventful pregnancy associated with unrelated condition provoked much clinical curiosity. NKH should therefore be included as a differential diagnosis in an unwell neonate presenting with hiccoughs, seizures, myotonic jerks, and hypotonia as our very unique case clearly demonstrated.

Citrullinemia with an atypical presentation: persistent hiccups. Case report

“…[6][7][8] Hiccups occur with a sudden inspiration immediately followed by active closure of glottis 6 . The involuntary contractions of the diaphragm and intercostal muscles of hiccups can be induced by affecting the afferent branch (vagus and phrenic nerve), central branch (brainstem, midbrain), and the efferent branch (phrenic nerve, glottis and intercostal muscles) of the hiccup reflex arc.…”

Citrulinemia de presentación atípica: hipo persistente. A propósito de un caso

“…dIscusIón El hipo, que es parte de la fase de desarrollo del feto, puede ser un síntoma no específico pocas veces asociado con la irritación del nervio vago y del nervio frénico, trastornos del tronco encefálico, trastornos metabólicos y drogas/ toxinas. [6][7][8] El hipo se produce cuando una inhalación repentina es seguida inmediatamente por el cierre activo de la glotis. 6 Al afectar la rama aferente (nervios vago y frénico), la rama central (tronco encefálico, mesencéfalo) y la rama eferente (nervio frénico, glotis y músculos intercostales) del arco reflejo del hipo 7 se pueden inducir contracciones involuntarias del diafragma y de los músculos intercostales producidas por el hipo.…”

A Newborn Infant With Poor Feeding: Non-ketotic Hyperglycinemia

“…Further, patients suffer from severe mental and developmental retardation and seizures if they survive the ventilatordependent period. 4,5 According to previous evidence, 6 the changes in the biochemical index in patients with NKH resulted in elevated plasma glycine and cerebrospinal fluid (CSF) concentrations, which increased the CSF to plasma glycine ratio above the normal level (0.04). Standard treatment strategies include the reduction of the plasma concentration of glycine, the use of N-methyl-D-aspartate (NMDA) receptor site antagonists, and the symptomatic care to control intractable seizures in addition to antiepileptic drugs.…”