Glucogenosis tipo I y III / Type I and III glycogenesis

Glycogen-storage diseases (GSD) are caused by enzymatic defects of glycogen degradation. Most of these enzymatic defects are mainly localized in the liver. In this group the clinical symptoms are hepatomegaly and hypoglycemia. Other enzyme defects are localized in muscles. Their global incidence is 1: 20.000 newborns and the inheritance is autosomal recessive, except for one, that is X-linked inherited. The most frequent GSD types are I, II, III and VI. Type I-a GSD is due to glucose-6- phosphatase deficiency and type III GSD is due to debranching-enzyme deficiency. In both types the clinical presentations include hypoglycemia, hepatomegaly, hyperlactacidemia and hyperlipidemia. The complications like gout, progressive renal failure and liver adenoma in type I-a GSD are particularly observed in adults. The aim of treatment is to prevent hypoglycemia and suppress secondary metabolic derangements with a diet every 2-3 hours 24 hours a day, providing precooked starch and uncooked starch. The prognosis, as in the majority of inborn errors of metabolism, depends on the age at diagnosis, early treatment and good follow-up during life.

Las glucogenosis son alteraciones del metabolismo del glucógeno, ocasionados por la ausencia o deficiencia de enzimas que participan tanto de su síntesis como en su degradación. La mayoría están localizadas en el hígado, siendo los signos clínicos característicos la hepatomegalia y la hipoglucemia. El resto se ubica en el tejido muscular. Su frecuencia es de 1:20 000 recién nacidos y son de herencia autosómica recesiva, excepto una que está ligada al cromosoma X. Las formas más frecuentes son las tipo I, II, III y VI. La glucogenosis tipo I-a se produce por la deficiencia de la enzima glucosa-6- fosfata y la glucogenosis tipo III por la falta de la enzima desramificadora de glucógeno hepático. En ambas, las manifestaciones clínicas son hipoglucemia, hepatomegalia, hiperlactacidemia, hiperlipidemia. Las complicaciones a largo plazo son gota, insuficiencia renal progresiva, adenoma hepático principalmente en la glucogenosis tipo I-a. El tratamiento consiste en evitar las hipoglucemias y las manifestaciones secundarías con una dieta fraccionada durante las 24 h del día, proporcionando carbohidratos de preferencia de absorción lenta y almidón crudo. El pronóstico general como en la mayoría de los errores innatos del metabolismo, dependerá de la edad de diagnóstico, del tratamiento oportuno y del buen control metabólico durante toda la vida.

Glycogen storage diseases in Thai patients: Phramongkutklao Hospital experience.

There are 3 cases of liver type glycogen storage diseases. All of them presented with protruding abdomen, failure to thrive, doll face and mark hepatomegaly. Laboratory findings were hypoglycemia, metabolic acidosis, abnormal liver function test, hyperlipidemia and prolonged bleeding time in GSD Ia. GSD III has no hypoglycemia and borderline hyperuricemia. Glucagon stimulation test helps to differentiate typing. The aim of treatment is to prevent hypoglycemia, suppress lactic acid production, decrease blood lipid and uric acid levels and enhances statural growth by uncooked cornstarch. Complications such as epistaxis and suspected liver adenoma have to be closely followed up. Genetic counseling for both types GSD are autosomal recessive with recurrence risk of 25%. Prenatal diagnosis by enzymes assay or molecular diagnosi are not available in this hospital.

Hepatocellular failure in glycogen storage disorder type 3.

A case of a 21 years male patient with type 3 glycogen storage disorder diagnosed at necropsy, who died suddenly with hypovolemic shock following a massive upper gastrointestinal bleeding due to hepatocellular failure is reported. Salient features of GSD type 3 are briefly discussed.

Essential fatty acid status in infants and children with chronic liver disease

The relationship between essential fatty acid [EFA] status and degree of hyperbilirubinaemia and oxidant stress in infants and children with chronic liver diseases was evaluated. Thirty patients with chronic cholestasis and 30 with liver cirrhosis were examined; 30 healthy subjects served as controls. Patient groups had significant decreases in EFAs and significant elevation of total bilirubin. Levels of thiobarbituric acid reactive substances were significantly raised and were significantly inversely correlated to decreased EFA levels. There were also significant decreases in retinol, alpha-tocopherol and alpha-tocopherol/total lipids ratio, which had significant positive correlations with decreased EFA levels. Infants and children with chronic liver diseases have a high risk of EFA deficiency correlated with progressive elevation of serum bilirubin and progressive deterioration of oxidant status