Hepatic Glycogenosis Research Articles

HEPATIC GLYCOGENOSIS ASSOCIATED WITH TYPE 1 DIABETES (A CASE REPORT)

Background:insulin deficiency in diabetes leads to many complications. Hepatocyte glycogen overload, previously known as Mauriac syndrome, is one of them. It is a rare syndrome initially described in type 1 diabetic children in whom significant hyperglycemia is followed by administration of high doses of insulin. Case Presentation:We present the case of a 17-year-old girl withuncontrolled type 1 diabetes. Admitted for growth retardation in addition to impuberism. The clinical examination revealed a weight delay associated with a distended abdomen and hepatomegaly. The laboratory work-up showed cytolysis and anicteric cholestasis with negative viral serologies and immunological assessment. Hepatic ultrasound revealed a 19 cm hepatomegaly without any focal signs or steatosis, as confirmed by a bili-MRI that proved the same finding. A management based on insulin therapy was introduced. The etiological investigation of the hepatic disturbances was negative. Conclusions:The course was satisfactory under appropriate insulin therapy. The diagnosis of hepatic glycogenosis was based on a combination of anamnestic, clinical and histological findings, given the absence of other abnormalities responsible for the liver disturbances.

THU384 Too Sweet To Digest; A Case Of Persistent Lactic Acidosis Secondary To Glycogenic Hepatopathy

Abstract Disclosure: T. Ayub: None. L.A. Robles: None. F. Sami: None. S. Saleem: None. S. Guntupalli: None. Glycogenic hepatopathy (GH) is an under-recognized cause of persistent lactic acidosis and hepatomegaly in patients with uncontrolled DM and diabetic ketoacidosis (DKA). A 19-year-old female with history of type 1 DM with recurrent DKA presented with complaints of nausea, vomiting and abdominal pain for 1 week. Physical exam showed normal vitals and lower abdominal tenderness. Her initial labs showed glucose 250 mg/dl, high anion gap metabolic acidosis with beta hydroxy butyrate of 11.3 mmol/l, lactic acid 3.2mm/l, and mild transaminitis. She was diagnosed with DKA and started on insulin drip. Anion gap responded to IV insulin and fluid therapy and was transitioned to SQ insulin. However, she had increase in her lactic acid (8.2mm/l), without hemodynamic compromise, despite fluid resuscitation. Secondary work up including blood, urine, sputum cultures were non diagnostic for an infectious etiology. Abdominal imaging showed a liver span of 26 cm. There were no signs of end organ hypoperfusion, medication or toxin mediated insult as evident by normal transthoracic echo, iron studies, urine drug screen, alcohol level and negative hepatitis panel. Review of prior hospitalizations showed recurrent episodes of DKA with similar uptrend in lactic acid levels with negative secondary work up. Prior imaging revealed hepatomegaly during DKA episodes with resolution after strict glycemic control. Given uncontrolled DM type 1 with reversible and recurrent hepatomegaly, transaminitis, hyperlipidemia and elevated lactic acid, a clinical diagnosis of glycogenic hepatopathy was made. Patient declined liver biopsy due to concerns for complications. She was discharged on home insulin regimen with outpatient follow up. GH or hepatic glycogenosis is a reversible cause of lactic acidosis and hepatomegaly seen in uncontrolled DM type 1. Pathogenesis involves presence of fluctuating levels of hyperglycemia and insulin, concomitantly, that leads to glycogen storage. Insulin inhibits gluconeogenesis resulting in decreased conversion of pyruvate to glucose and high lactic acid levels, in the absence of any infectious, metabolic and hypoxic etiology. Lactic acidosis can be worsened when treated with high dose Insulin. Definite diagnosis of GH requires liver biopsy or gradient dual-echo MRI but can be made clinically in the setting of uncontrolled DM1, hepatomegaly, transaminitis and elevated lactic acid levels. Prompt recognition of GH can prevent unnecessary diagnostic testing and can decrease the duration of hospital stay. Treatment is strict glycemic control with resolution of condition and no long-term complications. Presentation: Thursday, June 15, 2023

Mauriac Syndrome: A Rare Complication of Type 1 Diabetes Mellitus

The Mauriac syndrome is a rare complication of poorly controlled diabetes mellitus in adolescence. It is characterized by hepatomegaly, growth and puberty delay, and the presence of elevated transaminases and serum lipids. We report the case of a 17-years-old patient with type 1 diabetes who got admitted for evaluation of growth retardation. The clinical examination showed failure to thrive, hepatomegaly and abdominal distension. Blood sugar was very high. Blood transaminases were also high. Abdominal ultrasound showed homogeneous hepatomegaly. Viral hepatitis serologies and autoimmune study were negative. Liver histology analysis after liver biopsy comfirmed the hepatic glycogenosis. After glycaemic control was improved, liver enzymes normalized and the adbominal distension regressed.

The Liver and Glycogen: In Sickness and in Health

The liver is a major store of glycogen and is essential in maintaining systemic glucose homeostasis. In healthy individuals, glycogen synthesis and breakdown in the liver are tightly regulated. Abnormal glycogen metabolism results in prominent pathological changes in the liver, often manifesting as hepatic glycogenosis or glycogen inclusions. This can occur in genetic glycogen storage disease or acquired conditions with insulin dysregulation such as diabetes mellitus and non-alcoholic fatty liver disease or medication effects. Some primary hepatic tumors such as clear cell hepatocellular carcinoma also demonstrate excessive glycogen accumulation. This review provides an overview of the pathological manifestations and molecular mechanisms of liver diseases associated with abnormal glycogen accumulation.

Hepatic Glycogenosis: A Modern Reality in Children with Type 1 Diabetes

Background: Mauriac syndrome (MS) is a rare complication of type 1 diabetes (T1D). It is related to low insulin concentrations and is less common since longer-acting insulins became available. It is characterized by hepatomegaly, growth and puberty delay, and the presence of elevated transaminases and serum lipids. Case reports of patients with Mauriac syndrome are found infrequently in the literature given historic improvements in diabetes management due to readily available insulin therapy. Case: We report a case of Mauriac syndrome diagnosed in a 15-year-old male. The patient maintained poor glycemic control since childhood, presenting glycated hemoglobin persistently higher than 10% and recurrent episodes of ketoacidosis. He was referred for hepatomegaly evolving for 6 months. The clinical examination objectified a distended abdomen with hepatomegaly at 16 cm. Biological examinations showed hyperglycemia, major cytolysis and cholestasis anicteric. Support based on therapeutic education of the child and his family, as well as adequate insulin therapy have been established. The etiological investigation of hepatic disturbances was negative. The clinical and biological evolution was favorable. The diagnosis of hepatic glycogen storage disease was retained on a bundle of anamnestic and clinical arguments, in the absence of other anomalies responsible for the disturbances liverworts. The diagnostic certainty is histological, and the treatment is based on the equilibration of the diabetes. Conclusion: Although MS is an ancient entity described in T1D, it still exists, particularly in adolescent patients. Being aware of MS is of extreme importance since most of the clinical features are reversible with better glycemic control.

Persistent hyperlactatemia in decompensated type I diabetes with hepatic glycogenosis and hepatomegaly: Mauriac syndrome: a case report

BackgroundWe describe a case of Mauriac syndrome, which is a rare complication of poorly controlled type I diabetes that combines glycogenosis, hepatomegaly, growth retardation with a Cushingoid appearance that is most often present in children but also in young adults. Here we also describe another finding with this syndrome, which is hyperlactatemia.Case presentationThe case is of a 16-year-old female of North African ethnicity with history of poorly controlled type I diabetes who was brought to the emergency department for dyspnea and tachycardia, treated initially for diabetic ketoacidosis. Her persistent hyperlactatemia helped to reveal a more subtle condition known as Mauriac syndrome after multiple examinations and follow-up.ConclusionsThis case reports shows that Mauriac syndrome is a rare condition that should be considered in a setting of poorly controlled type I diabetes, hepatomegaly, Cushingoid appearance, and hyperlactatemia. The current treatment of this condition is a strict control of blood glucose levels with an attempt to achieve an acceptable glycated hemoglobin value.

HEPATIC GLYCOGENOSIS: AN UNDER-RECOGNIZED COMPLICATION OF POORLY CONTROLLED DIABETES MELLITUS TYPE 1(THREE CLINICAL CASES)

Hepaticglycogenosis is an inherited abnormality characterized by excessive glycogen accumulation in hepatocytes. It is a hepatic complication of poorly controlled type 1 diabetes mellitus. It combines hepatomegaly, growth failure, and hepatic cytolysis as well ascushing-like feature. Hepatic glycogenosis is only diagnosed by liver biopsy. We report the observation of three clinical cases: N°1: A 16-year-old male, with type 1 diabetes mellitus since a year. Admitted for keto-acidosic decompensation, he presented dyspnea, a distended abdomen with painless hepatomegaly. Abdominal ultrasound showed 21 cm homogeneous hepatomegaly. The anatomo-pathological study of the liver biopsy confirmed the diagnosis of hepatic glycogenosis.N°2:An 18-year-old female, with type 1 diabetes mellitusfor 14 years with a severe growth failure, she presented a major cytolysis with hepatic cholestasis for 5 years. Abdominal ultrasound showed homogeneous hepatomegaly.Theanatomo-pathological study of the liver biopsy confirmed the diagnosis of hepatic glycogenosis.N°3:A 19-year-old female, with type 1 diabetes mellitusfor 8 years, epilepsy and delayed puberty. The biological check-up had objectified a very significant cytolysis and major dyslipidemia. Abdominal ultrasound shows hepatomegaly associated with hepatic steatosis. A liver biopsy was indicated, but not performed as the patient was lost to follow-up.The discovery of hepatomegaly in a patient with poorly controlled type 1 diabetes mellitus must evoke a variety of diagnoses. Although hepatic glycogenosis is a rare diagnosis, it should not be ignored by the clinician.Through these clinical cases, the pathophysiology of hepatic glycogenosis, complications as well as therapeutic management has been discussed.

Further Delineation of the Spectrum of XMEN Disease in Six Chinese Pediatric Patients

X-linked MAGT1 deficiency with increased susceptibility to EBV-infection and N-linked glycosylation defect (XMEN) disease is a primary immunodeficiency caused by loss-of-function variants in the MAGT1 gene. Only two patients from one family have been diagnosed with XMEN in China. In this study, we retrospectively analyzed the genetic, clinical, and immunological characteristics of six pediatric patients in a Chinese cohort. Medical records were retrieved, immunological phenotypes were assessed, and infectious microbes in patients were detected. Six male patients (mean age, 6.3 years) from five unrelated families were genetically diagnosed as XMEN. Five patients presented with a major complaint of elevated liver enzymes, while one patient was referred for recurrent fever, cough and skin rash. Five patients developed EBV viremia, and one patient developed non-Hodgkin’s lymphoma. Histopathological findings from liver biopsy tissues showed variable hepatic steatosis, fibrosis, inflammatory infiltration, and glycogenosis. Immune phenotypes included CD4 T-cell lymphopenia, elevated B cells, inverted CD4/CD8 ratios, and elevated αβDNTs. No pathogenic microbes other than EBV were identified in these patients. This study reports the clinical and molecular features of Chinese patients with XMEN. For patients with transaminase elevation, chronic EBV infection and EBV-associated lymphoproliferative disease, the possibility of XMEN should be considered in addition to isolated liver diseases.

A very fruitful liver – hepatic glycogenosis in poorly controlled type 1 diabetes mellitus

Hepatic glycogenosis (HG) is an underrecognised hepatic pathology of diabetes with excess glycogen deposition in the hepatocytes as a result of hyperglycaemia and large doses of insulin administration in type 1 diabetes. This case study reports a 25-year-old female with a constellation of nonspecific symptoms including lethargy, tremors, diaphoresis, and generalized abdominal pain. This in on a background of anti-IA2 antibody positive type 1 diabetes with a HbA1c of 8.9%. The patient also had a persistently elevated lactate level in the absence of sepsis or abdominal pathology. Core liver biopsy showed macrovesicular steatosis, hepatocytes with granular cytoplasm and pseudo inclusions, which stained PAS-positive for glycogen. The hepatocytes also showed features of megamitochondria. Focal lobular inflammation was seen associated with spotty necrosis in one focus. HG arises from disruption of the normal balance between glycogenesis and glycogenolysis, leading to trapping of glycogen within the hepatocytes. This leads to hepatomegaly and consequent liver damage which becomes evident with blood release of aminotransferases.

Fenretinide treatment accelerates atherosclerosis development in apoE-deficient mice in spite of beneficial metabolic effects.

Fenretinide, a synthetic retinoid derivative first investigated for cancer prevention and treatment, has been shown to ameliorate glucose tolerance, improve plasma lipid profile and reduce body fat mass. These effects, together with its ability to inhibit ceramide synthesis, suggest that fenretinide may have an anti-atherosclerotic action. To this aim, nine-week-old apoE-knockout (EKO) female mice were fed for twelveweeks a Western diet, without (control) or with (0.1% w/w) fenretinide. As a reference, wild-type (WT) mice were treated similarly. Growth and metabolic parameters were monitored throughout the study. Atherosclerosis development was evaluated in the aorta and at the aortic sinus. Blood and lymphoid organs were further characterized with thorough cytological/histological and immunocytofluorimetric analyses. Fenretinide treatment significantly lowered body weight, glucose levels and plasma levels of total cholesterol, triglycerides, and phospholipids. In the liver, fenretinide remarkably reduced hepatic glycogenosis and steatosis driven by the Western diet. Treated spleens were abnormally enlarged, with severe follicular atrophy and massive extramedullary haematopoiesis. Severe renal hemosiderin deposition was observed in treated EKO mice. Treatment resulted in a threefold increase of total leukocytes (WT and EKO) and raised the activated/resting monocyte ratio in EKO mice. Finally, atherosclerosis development was markedly increased at the aortic arch, thoracic and abdominal aorta of fenretinide-treated mice. We provide the first evidence that, despite beneficial metabolic effects, fenretinide treatment may enhance the development of atherosclerosis.

Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.

BackgroundHepatic glycogen storage diseases (GSDs) are a group of rare genetic disorders in which glycogen cannot be metabolized to glucose in the liver because of enzyme deficiencies along the glycogenolytic pathway. GSDs are well‐recognized diseases that can occur without the full spectrum, and with overlapping in symptoms.MethodsWe analyzed a cohort of 125 patients with suspected hepatic GSD through a next‐generation sequencing (NGS) gene panel in Ion Torrent platform. New variants were analyzed by pathogenicity prediction tools.ResultsTwenty‐seven new variants predicted as pathogenic were found between 63 variants identified. The most frequent GSD was type Ia (n = 53), followed by Ib (n = 23). The most frequent variants were p.Arg83Cys (39 alleles) and p.Gln347* (14 alleles) in G6PC gene, and p.Leu348Valfs (21 alleles) in SLC37A4 gene.ConclusionsThe study presents the largest cohort ever analyzed in Brazilian patients with hepatic glycogenosis. We determined the clinical utility of NGS for diagnosis. The molecular diagnosis of hepatic GSDs enables the characterization of diseases with similar clinical symptoms, avoiding hepatic biopsy and having faster results.

Glucogenosis Hepática. Características clínicas, laboratoriales e imagenológicas en pacientes pediátricos menores de 15 años

Antecedentes: La glucogenosis (GSD) hepática es una enfermedad hereditaria autosómica recesiva caracterizada por la alteración del depósito de glucógeno en los tejidos. La enfermedad se presenta con hepatomegalia, debilidad muscular y retraso del crecimiento. Esta patología usualmente se diagnostica clínicamente a partir de los 6 meses de edad cuando la ingesta de alimentos del lactante es más espaciada y puede debutar con sintomatología de hipoglicemia. Debido a la inespecificidad de la presentación clínica de la enfermedad es muy importante la sospecha diagnóstica desde los centros de primer nivel de atención y su derivación oportuna a centros de especialidad. Objetivo: Evaluar y describir el perfil nutricional y clínico en pacientes menores de 15 años con Glucogenosis Hepática. Método: Se describe una serie de casos de 14 pacientes menores de 15 años con diagnóstico clínico de GSD hepática, atendidos en la consulta de Gastroenterología y Nutrición Pediátrica del Hospital Carlos Andrade Marín entre 2016 y 2018. El diagnóstico se lo realizó de acuerdo a la clínica que presentó cada paciente como la presencia de distensión abdominal, hepatomegalia, adinamia, retraso en el crecimiento y datos laboratoriales como niveles de glicemia en sangre periférica, transaminasas, y realización de elastografía entre los principales. Se analizaron datos sociodemográficos, antropométricos, de laboratorio (transaminasas, glicemia periférica) y elastografía hepática. Para el análisis de datos se creó una base de datos en Microsoft Excel 2013 y se procesó con el programa Epi Info 7. Resultados: En este grupo de casos, los tipos específicos de GSD hepática fueron tipo IX, 57,14% (8), tipo III, 28,57% (4) y tipo Ia-b, 14,29% (2) pacientes. La prevalencia de características clínicas ante la sospecha de la GSD hepática fueron: hepatomegalia 100% (14), y retraso en el crecimiento el 64,3% (9). De acuerdo a los exámenes de sangre periférica los valores promedio de transaminasas hepáticas (AST/TGO U/L) (ALT/TGP U/L) y glucosa, fueron de 364±384, 302±255 y 61±15 mg/dL, respectivamente. La elastografía con la que se evaluó el nivel de fibrosis hepática al momento del diagnóstico arrojó los siguientes resultados: F0 (no fibrosis hepática) en el 28,57% (4), F1 con el 28,57% (4), F2-F3 con el 35,71% (5), y F4 7,14%. Conclusión: La Glucogenosis es una patología que debería ser sospechada a tiempo en centros del primer nivel de salud para luego referir oportunamente los casos a los centros de referencia. La hepatomegalia y el retardo en el crecimiento son signos cardinales de alerta para la sospecha de esta patología.

Abstract #309 Hepatic Glycogenosis: A Case of Reversible Liver Injury Precipitated by DKA

Abstract #309 Hepatic Glycogenosis: A Case of Reversible Liver Injury Precipitated by DKA

Hepatomegaly and type 1 diabetes: a clinical case of Mauriac\u2019s syndrome

BackgroundHepatic glycogenosis is characterized by excessive glycogen accumulation in hepatocytes and represents a complication of poor controlled type 1 diabetes. It can be caused by excessive insulin doses or recurrent ketoacidosis episodes. Mauriac’s syndrome is a rare disease, which includes short stature, growth maturation delay, dyslipidemia, moon facies, protuberant abdomen, hepatomegaly with transaminase elevation. It has become even less common after the emergence of advances on diabetes treatment, but still exists. Recent reports described glycogenosis without the full spectrum of Mauriac’s syndrome in both adults and children with brittle diabetes. Clinical, laboratory and histological abnormalities are reversible with appropriate glycemic control.Case presentationWe hereby report a case of 11-year-old male who presented with hepatic glycogenosis mimicking Mauriac’s syndrome. The patient was admitted at our Pediatric Diabetes Clinic for marked hepatomegaly, short stature and for the poor metabolic control. Blood investigations and liver tests excluded most of major causes of hepatopathy. A liver biopsy allowed us to make diagnosis of hepatic glycogenosis. To control hyperglycaemia, initially we titrated daily insulin dosage, and then intravenous insulin treatment was practiced with the consequent normalization of liver enzymes.ConclusionMauriac’s syndrome should be considered in subjects with brittle type 1 diabetes and hepatomegaly.

Mauriac Syndrome: A Rare Complication of Type 1 Diabetes Mellitus.

Mauriac syndrome, first described in 1930, is typically diagnosed in young patients with poorly controlled type 1 diabetes mellitus and growth retardation, delayed puberty, Cushingoid features, hypercholesterolaemia and hepatomegaly. However, the sole presenting feature of Mauriac syndrome can be hepatic glycogenosis in both adults and children. The mainstay of treatment for hepatic glycogenosis is strict control of glucose levels, with an excellent prognosis with improved glycaemic control. The authors present the case of a 22-year-old female patient with type 1 diabetes mellitus and a history of poor glycaemic control who was admitted with diabetic ketoacidosis (DKA). She complained of episodes of right upper quadrant abdominal pain associated with nausea and vomiting for the last 2 months with worsening in the last 48 hours. Physical examination was remarkable for short stature and tenderness over the hepatic area with a mildly enlarged liver. The patient had elevated liver enzymes and persistent hyperlactacidaemia despite DKA resolution. Liver imaging suggested diffuse fat infiltration. The clinical suspicion of hepatic glycogenosis was confirmed by liver biopsy. After glycaemic control was improved, liver enzymes normalized and the episodes of abdominal pain, nausea and vomiting subsided.LEARNING POINTSHepatic glycogenosis can be the sole presenting feature of Mauriac syndrome.Hepatic glycogenosis is an under-recognized cause of abdominal pain in patients with type 1 diabetes mellitus.Hepatic glycogenosis may be confused with non-alcoholic fatty liver disease, with important therapeutic implications and a distinct prognosis.The mainstay of treatment for hepatic glycogenosis is strict glycaemic control with an excellent prognosis when achieved.

Computed Tomography and Magnetic Resonance Imaging Features of Primary and Secondary Hepatic Glycogenosis

Glycogen storage disease type I and glycogenic hepatopathy are the most common type of primary and secondary hepatic glycogenosis, with presenting common radiological features of hepatomegaly, hepatic signal, or density change. Beyond that, glycogen storage disease type I shows hepatocellular adenomas or fatty liver, while glycogenic hepatopathy does not.

Relationship between genetic variation at PPP1R3B and levels of liver glycogen and triglyceride.

These observations are consistent with the notion that the minor allele of rs4841132 promotes a mild form of hepatic glycogenosis that is associated with hepatic injury. (Hepatology 2018;67:2182-2195).

Glycogenic hepatopathy

BackgroundGlycogenic hepatopathy (GH) is a disorder associated with uncontrolled diabetes mellitus, most commonly type 1, expressed as right upper quadrant abdominal pain, hepatomegaly and increased liver enzymes. The diagnosis may be difficult, because laboratory and imaging tests are not pathognomonic. Although GH may be suggested based on clinical presentation and imaging studies, the gold standard for diagnosis is a liver biopsy, showing a significant accumulation of glycogen within the hepatocytes. GH may be diagnosed also after elevated liver enzymes in routine blood tests. GH usually regresses after tight glycemic control. Progression to end-stage liver disease has never been reported. This review aims to increase the awareness to this disease, to suggest a pathway for investigation that may reduce the use of unnecessary tests, especially invasive ones. Data sourcesA PubMed database search (up to July 1, 2017) was done with the words “glycogenic hepatopathy”, “hepatic glycogenosis”, “liver glycogenosis” and “diabetes mellitus-associated glycogen storage hepatopathy”. Articles in which diabetes mellitus-associated liver glycogen accumulation was described were included in this review. ResultsA total of 47 articles were found, describing 126 patients with GH. Hepatocellular disturbance was more profound than cholestatic disturbance. No synthetic failure was reported. ConclusionsGH may be diagnosed conservatively, based on corroborating medical history, physical examination, laboratory tests, imaging studies and response to treatment, even without liver biopsy. In case of doubt about the diagnosis or lack of clinical response to treatment, a liver biopsy may be considered. There is no role for noninvasive tests like fibroscan or fibrotest for the diagnosis of GH or for differentiation of this situation from nonalcoholic fatty liver disease.

Œdème insulinique au cours d’une glycogénose hépatique

IntroductionHepatic glycogenosis is a rare syndrome, which includes poorly controlled diabetes mellitus, hepatomegaly, delayed puberty, and growth delay. Insulin edema is sometimes associated. Case reportAn 18-year-old woman presented with diffuse edema, hepatomegaly, amenorrhea, uncontrolled diabetes, and elevated transaminases and cholestasis. Hepatic ultrasonography and abdominal computed tomographic scan confirmed the hepatomegaly. The liver biopsy showed a massive glycogenosis and the diagnosis of hepatic glycogenosis was confirmed. Too large doses of insulin were responsible of diffuse edema. Diabetes equilibration and diminution of insulin intakes allow correction of this disorder. ConclusionExcess of insulin can lead to excessive hepatic glycogen storage by activation of glycogenosis enzymes. Biological manifestations consist on elevated liver enzymes and hyperlactatemia. There is a link between administration of high dose of insulin and edema. Hepatic glycogenosis should be suspected when diabetes is uncontrolled and be considered as a differential diagnosis of steatosis. It may be associated and revealed by insulin edema directly related to excessive insulin intakes.

Glycogenosis: A Rare Etiology of Transaminitis

Hepatic glycogenosis is a rare etiology of elevated hepatic transaminases reported in the literature. Glycogenosis is associated with uncontrolled diabetes and can be confused with other forms of acute liver injury. This disease can be diagnosed via liver biopsy and reversed by ensuring tight glycemic control. Given this diagnosis is unrecognized but curable, we highlight a case of hepatic glycogenosis in a patient treated at our institution. Patient is a 24 year-old female with past medical history of depression and uncontrolled Diabetes Mellitus Type 1 with recurrent hospital admissions for Diabetic Ketoacidosis (DKA). She presented to the hospital with one day of nausea and vomiting; she was subsequently diagnosed with DKA, and admitted to the intensive care unit for further clinical care. The patient was initiated on fluids and insulin drip for DKA treatment and continued on her home regimen of duloxetine for depression management. Several days into her admission, the patient developed increases in aspartate transaminase (AST) and alanine transaminase (ALT), with initially normal then elevated alkaline phosphatase. Bilirubin and INR remained with normal limits. Over 10 days, lab values peaked with AST of 535, AST of 465, and alkaline phosphatase of 194. Initial serology including HBs Ag, HBc Ab, HCV Ab, CMV, EBV, HIV, ANA, AMA, antiSMA, and ferritin were negative. Given that there was no history of herbal intake or new hepatotoxic medications initiated, suspicion for drug induced liver injury was low, albeit remained on the differential. There were no episodes of hypotension or active infection throughout the admission. A right-upperquadrant ultrasound was performed with unremarkable findings. During previous admissions for DKA, there were similar acute instances of elevated liver-associated enzymes (Figure 1). Given concern of this recurrent transaminitis, a liver biopsy was pursued. Hematoxylin & eosin (H&E) staining revealed glycogen deposits with no hepatitis or fibrosis, convincing for a diagnosis of hepatic glycogenosis (Figure 2).Figure 1Figure 2Hepatic glycogenosis should be suspected in the appropriate clinical situation after other etiologies are ruled out. It is easily treatable with strict glycemic control. Given the reversibility of liver injury in these patients, raising awareness about an underreported and unrecognized disease is undoubtedly clinically significant in medical practice.