HHH Syndrome (hyperornithinaemia, Hyperammonaemia, Homocitrullinuria), with Fulminant Hepatitis-like Presentation

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 2006 Apr 8

PMID 16601889

Citations 15

Authors

S Fecarotta

G Parenti

P Vajro

A Zuppaldi

R Della Casa

M T Carbone

A Correra

G Torre

S Riva

C Dionisi-Vici

F M Santorelli

G Andria

Affiliations

Soon will be listed here.

Abstract

We report a 3-year-old Italian patient with the hyperornithinaemia, hyperammonaemia, homocitrullinuria (HHH) syndrome who presented with neurological deterioration after an intercurrent infection. Hyperammonaemia, coagulopathy and moderate hypertransaminasaemia were detected on hospital admission. Severe hepatocellular necrosis with hypertransaminasaemia (aspartate aminotransferase 20,000 UI/L, alanine aminotransferase 18,400 UI/L) and coagulopathy (PT < 5%) rapidly developed within few days, prompting evaluation for liver transplantation. A protein-restricted diet and arginine supplementation were immediately started, with a rapid improvement of the patient's neurological conditions and normalization of liver function tests and blood ammonia. The diagnosis of HHH syndrome was based on the presence of the typical metabolic abnormalities. Molecular analysis of the SLC25A15 gene showed that the patient was heterozygous for two novel mutations (G113C and M273K). The diagnosis of HHH syndrome should be considered in patients with fulminant hepatitis-like presentations. Early identification and treatment of these patients can be life-saving and can avoid liver transplantation.

Citing Articles

Late onset hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome, presenting as recurrent metabolic encephalopathy, A case report.

Sarhan F, Jobran A, Fayyad A, Ghanim Z, Dweikat I, Elewie S Ann Med Surg (Lond). 2022; 84:104842.

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Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report.

Silvera-Ruiz S, Gemperle C, Peano N, Olivero V, Becerra A, Haberle J Front Immunol. 2022; 13:861516.

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Wilson's Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned!.

Fernando M, Vijay S, Santra S, Preece M, Brown R, Rodrigues A Euroasian J Hepatogastroenterol. 2021; 11(2):100-102.

PMID: 34786365 PMC: 8566159. DOI: 10.5005/jp-journals-10018-1351.

Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report.

Silfverberg T, Sahlander F, Enlund M, Oscarson M, Hardstedt M J Med Case Rep. 2018; 12(1):274.

PMID: 30243302 PMC: 6151189. DOI: 10.1186/s13256-018-1794-9.

Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia.

Wild K, Ganetzky R, Yudkoff M, Ierardi-Curto L JIMD Rep. 2018; 44:103-107.

PMID: 30187369 PMC: 6323011. DOI: 10.1007/8904_2018_132.

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