3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency: A Case Report and Literature Review

Abstract

In order to define optimal dietary treatment, it is important to collect higher numbers of case studies with detailed dietary management, fasting times and outcome.

Coma en adulto joven de causa inhabitual

“…El déficit de 3-HMGL es un error congénito del metabolismo de la leucina y la cetogénesis producido por mutaciones en el gen HMGCL (Hidroximetilglutaril-CoA liasa) localizado en el cromosoma 1p36.11 [1][2][3][4][5][6] . El diagnóstico puede establecerse por el análisis de ácidos orgánicos en orina (elevación de 3-Hidroxi-3-Metilglutárico, 3-Metilglutarico, 3-MetilGlutaconico y 3 hidroxiIsovalérico) y acilcarnitina en suero (niveles elevados de 3-hidroxi-isovalerilcarnitina y disminución de la concentración de carnitina libre) [1][2][3][4][5]8 . Más del 60 % de los casos son diagnosticados antes del primer año de vida 1,3,4,6 .…”

“…Generalmente se presenta con episodios recurrentes de hipoglucemia grave [1][2][3][4] . Los episodios pueden desencadenarse por ayuno, infección, vacunaciones, ejercicio físico excesivo u otra enfermedad intercurrente 1,5,6,8 . Los síntomas incluyen: vómitos, diarrea, letargia, coma, temblor, hipotonía, crisis epilépticas, hepatomegalia y cardiomiopatía y los hallazgos de laboratorio: elevación de transaminasas, anemia, acidosis metabólica e hipoglucemia hipocetósica 1,2,5,7,8 .…”

An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency

“…A late-onset presentation has been described in very few cases. Some cases have been reported in infancy and late childhood [ 9 , 10 ], while, to our knowledge, only two adult cases have been described [ 11 , 12 ]. The present work aims to describe an incidental discovery of an HMGLD case in a 54-year-old patient and reports a comprehensive review of clinical and biological features in adult patients in order to get more insight into the late-onset presentation of this disease.…”

Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center

“…Patients with this disease are prone to have severe metabolic decompensations with hypoketotic hypoglycemia and metabolic acidosis, which often occur within the neonatal period and may result in permanent neurological damage or death, if not treated immediately. [1][2][3][4][5][6] In the literature, there is only a few reports that have provided a comprehensive clinical overview on large groups of patients. [7][8][9][10][11][12] A diagnosis of a hepatic manifestation of HMGCL deficiency includes the following: hepatomegaly, an abnormal liver biochemical profile, fatty liver, and hepatic steatosis by liver biopsy, 13,14 and also may be associated with nonketotic hypoglycemia and hyperammonemia.…”