Glucose Phosphate Isomerase (GPI) deficiency
 PAST CASES


Publication Date

Title

Lead Author Affiliations

Splenectomy?

Notes.

2010

Amoxicillin-Induced Hemolytic Anemia in a Child with Glucose 6-Phosphate Isomerase Deficiency

Dr. Ruggiero,

Department of Experimental Medicine, Section of Pharmacology `Leonardo Donatelli,' Second University of Naples, Via Costantinopoli 16, 80138 Naples, Italy, fax 39 081 5667652,

simona.ruggiero@unina2.it

No

 3-year-old boy with GPI deficiency was admitted for upper respiratory tract infection and fever. The patient was treated with a standard dose of amoxicillin (50 mg/kg/day). On hospital admission, the child had a chronic moderately low hemoglobin level (8.6 g/dL)2007


Targeted Therapy for Inherited GPI Deficiency

Dr. Karadimitris at the Department of Haematology, Imperial College London, Hammersmith Hospital, Du Cane Rd., London W12 0NN, United Kingdom

a.karadimitris@imperial.ac.uk.

 

 

In 1995, a 2-year-old girl presented with hepatic vein thrombosis and the Budd–Chiari syndrome. When the patient was seen in the UK at the age of 14, she was having multiple absence seizures and approximately five tonic–clonic seizures per day. On examination, the patient was wheelchairbound with global hypotonia, drooling, and extreme drowsiness. She was poorly responsive and unable to feed herself, symptoms that may have reflected toxic effects of the antiepileptic therapy as well as the disease itself.

2006

Red Cell Glucosephosphate-  Isomerase (GPI): A molecular study of three novel mutations associated with hereditary Nonspherocytic Hemolytic Anemia

Fernando Climent,

Unitat de Bioquimica, Dep de Ciencies Fisiologiques I, Facultat de Medicina, Universitat de Barcelona, Casanova 143, 08036 Barcelona, Spain

Tel:34 93 4021920;

Fax: 34 93 4035882

feliment@ub.edu

Yes

One patient homozygous (GPI-Catalonia) and other (GPI-Barcelona)

2002

Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome

Corresponding author. Philip J. Mason Department of Haematology—Division of Investigative Science, Faculty of Medicine, Imperial College of Science Technology and Medicine, The Hammersmith Hospital, Ducane Road, London W12 0NN

 

p.masonl@ic.ac.uk (P.J. Mason).

 

This female patient presented aged 1 year with pallor, jaundice, and weakness. Her parents are consanguineous (second cousins) of Asian Indian origin. Hemolytic crises with a nadir in hemoglobin of 3 g/dl required transfusion on two occasions. The steady-state hemoglobin was 8–9 g/dl with marked reticulocytosis (16%). One of her five siblings died aged 3 years with jaundice and anemia, possibly due to GPI deficiency, although this cannot be confirmed. The GPI activity of case 2 was 5 IU/g Hb (normal range 37–49 IU/g Hb).

2000

Glucose-6-phosphate isomerase deficiency

UniversitaÈ ts-Kinderklinik, Robert-Koch-Strasse 40, D-37075 GoÈttingen, Germany

Yes

For diagnostic and prognostic purposes, we have tried to subdivide known patients with GPI deficiency into two categories, generally termed `mild/moderate' and `severe', on the basis of data on splenectomy and transfusion requirements

1997

Glucosephosphate Isomerase (GPI) Deficiency Mutations

Associated with Hereditary Nonspherocytic Hemolytic Anemia

(HNSHA)

Ernest Beutler, M.D.,

Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037. phone (619) 784-8040, fax (619) 784-2083,

 

beutler@scripps.edu

Yes

Five unrelated patients with hereditary (GPI) deficiency resulting in nonspherocytic hemolytic anemia were studied. Three new mutations were found in the coding region of the GPI gene: two patients were heterozygous for 223 A=G (R75G) and 898 G=C(R300P), respectively and one was homozygous for 1415G=A(R472H).

1996

Molecular Analysis of Glucose Phosphate Isomerase Deficiency Associated With Hereditary Hemolytic Anemia

Hitoshi Kanno, MD, PhD, Okinaka

Memorial Institute for Medical Research, 2-2-2 Toranomon. Minatoku, Tokyo 105, Japan.

 

We report here two new cases of glucose phosphate isomerase (GPI) deficiency associated with hemolytic anemia and present the results of molecular analysis of the five Japanese GP1 variants. A

1996

Glucosephosphate e Isomerase Deficiency: biochemical and molecular genetic studies on the enzyme variants of two patients with severehaemolytic anaemia.

P.Huppke,,D.Wunsch,,A.Pekrun,R.H.Winkler,W.Schroter,and M.Lakomek

Universitats- Kinderklinik, Robert-Koch-Strasse 4, D-37075 Gottingen, Germany

Tel +49 551 396214; Fax +49 551 396252

Yes

At the age of 4 he had splenectomy, since then no further blood transf have been necessary

1994

The Characterization of Gene Mutations for Human Glucose Phosphate Isomerase Deficiency Associated with Chronic Hemolytic Anemia

Ernest Beutler, Department of Molecular and Experimental Medicine, SBR3, The Scripps Research Institute, 10666 North Torrey Pines Road, La Jolla, CA 92037.

 

Seven new mutations were identified in the GPI gene. Six of the seven mutations were found to involve highly conserved amino acids.

1990

Combination of Congenital Nonspherocytic Hemolytic Anaemia and Impairment of Granulocyte Function in Severe Glucosephosphate Isomerase Deficiency A new variant Enzyme Designated GPI Calden

Dep of Peadriatics, University of Gottingen, FRG

 

 

1985

Generalised glucosephosphate isomerase (GPI) deficiency causing haemolytic anaemia, neuromuscular symptoms and impairment of granulocytic function: a new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg)

Department of Pediatrics, University Hospital of Gottingen, Humboldtallee 38, D-3400 G6ttingen, Federal Republic of Germany

 

 

The propositus suffers from a complex syndrome involving erythrocytes (congenital haemolytic anaemia), granulocytes (decreased production of superoxide anion and reduced bactericidal activity in vitro) and the neuromuscular system (myopathy, mental retardation).

1985

Ultrastructural and histochemical abnormalitues of skeletal muscle in a patient with a new variant (type Homburg)) of glucosephosphate-  isomerase deficiency (GPI)

A.Bardosi

Division of Neuropathology and Department of Pedriatics, University of Goettingen, Robert-Koch- Strase 40, D-3400 Goettingen, Germany

Yes

A 13-year-old boy suffered from Periodic clouding of consciousness all his life. Hemolytic crises were successfully treated with splenectomy. He had weakness of muscle groups, mixed sensory disturbance, cerebellar ataxiawith dystonic and dyskinetic pattern and mental retardation. EEG showed intermittent diffuse abnormalities and biparietal sharp waves. Raise the possibility of a crucial role of GPI in CNS tissues.

1985

Generalised glucosephosphate isomerase (GPI) deficiency causing haemolytic anaemia, neuromuscular symptoms and impairment of granulocytic function: a new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg)

W. Schroter

Department of Pediatrics, University Hospital of G6ttingen, Humboldtallee 38, D-3400 G6ttingen, Federal Republic of Germany

 

Yes

The patient, R.E., born 11.3. 1970, suffered from recurrent, spontaneous haemolytic crises after the third year of life requiring several transfusions. After splenectomy at the age of 5 years the haemolytic crises disappeared and no further transfusions were necessary. Since birth there had been feeding difficulties and attacks of impaired consciousness, supposed to be epileptic seizures. Anticonvulsive treatment was unsuccessful. Psychomental retardation appeared mainly as disturbed logical thinking, inadequate behavior and impaired school performance.

1984

Glucose -6- Phosphate Isomerase Deficiency-Nahariya: Extreme In Vitro and in Vivo Lability of the mutant Enzyme

G.Rijksen

Dep of Medical Enzymology, State University Hospital, Catharijnesingel 101,3500 CG Utrecht, The Netherlands

 

 

1983

Glucosephosphate-  Isomerase Type Kaiserslautern A new variant causing congenital Nonspherocytic Hemolytic Anemia

Prof dr. Heidwolf Arnold, Medizinische Universitatsklinik, Hugstetterstr. 55, D-7800 Freiburg i. Br.,Germany

 

 

1980

The First Stable Variant of Erythrocyte GlucosePhosphate lsomerase Associated With Severe Hemolytic Anemia

Dr. Alberto Zanella,

Transplantation Immunology and Blood Transfusion Service, Ospedale Maggiore Policlinico, Via Francesco Sforza 35, Milano, Italy

 

A new variant of  (GPI) associated with hemolytic anemia, mental retardation, and muscular hypotonia is described.

1980

A Case of Congenital Nonspherocytic Hemolytic Anemia Associated with Glucosephosphate Isomerase (GPI) Deficiency-GPI

Yasuhiro OHABA

Dep of Clinical Pathology, School of Medicine, Kinki University, Osaka

Yes

Clinically, improvement was noticed in most cases splenectomized. Only one case showed mental retardation.

1980

Augsburg-Type Glucosephosphate Isomerase Deficiency A New Variant Causing Congenital Nonspherocytic Hemolytic Anemia in German Family

 

 

 

1980

Red Cell Glucosephosphate-  Isomerase Deficiency: Two New Mutant Enzymes

 

Yes

2 cases one had splenectomy at the age of 6 with noticeable improvement.

1979

Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis

Dr M. M. Liberman, the paediatrician caring for the two children,

Yes

This baby was the first child of unrelated, healthy Caucasian parents. The mother was aged 35 and the father  34 at the time of delivery. It was concluded that this second child was, like the first, heterozygous for the 2 different variant GPI alleles, and was at risk for haemolvtic anaemia. In this family both parents appear to be heterozygous for a different GPI variant allele associated with deficiency of the enzyme.

1979

Erythrocyte Membrane Proteins in Hereditary Glucosephosphate Isomerase Deficiency

Department of Hematology, School of Pathology, The South African Institute for Medical Research, and The University of the Witwatersrand, Johannesburg, South Africa

Yes

In the present study we present our findings in a patient with a thermolabile GPI variant who has a high molecular weight aggregate of membrane proteins in freshly prepared erythrocyte membranes, which we speculate may contribute to decreased deformability of these erythrocytes and their premature destruction.

1978

A New vVariant of GPI with Mild Haemolytic Anaemia (GPI MYTHO)

P.Boivin, INSERM U160, Hospital Beaujon, 92118 Clichy, France

 

6-year old girl, with mild anaemia, with no abnormality.

1977

Haemolytic Anaemia Associated with Glucosephosphate Isomerase (GPI) Deficiency in a Black South African Child

Dr Eftihia Cayanis, Enzyme Research Unit, The South African Institute for Medical Research, Johannesburg, South Africa.

Yes

8-year-old Black girl, was first seen at 3 months of age with hepatosplenomegaly and severe anemia; Blood transfusions were required every 1-3 months during the first year of life.

1977

A NEW VARIANT OF GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY: GPI-KORTRIJK

G .E .J . STAAL  Unit of Medical Enzymology, Department of Haematology, State University Hospital Utrecht (The Netherlands)

Yes

A 7-year-old girl was admitted to the academic hospital, department of pediatrics of the University of Leuven for observation of a severe hemolytic anemia. Since birth she was suffering from a severe non-classified hemolytic disorder. Splenectomy was performed and improved the course of the hemolytic disorder. At admission to the Academic Hospital Utrecht {Unit of Medical Enzymology) a GPI deficiency was detected.

1977

Decreased Deformability of Erythrocytes in Haemolytic Anaemia Associated with Glucosephospha te Isomerase Deficiency

Professor W. Schroter.

Department of Paediatrics, University of Gottingen, Humboldtallee 38, D-3400 Gottingen, Federal Republic of Germany

Yes

The clinical improvement of all patients following splenectomy which is accompanied by an increase of the erythrocyte survival time and by unchanged reticulocyte counts, is in accordance with this view.

1977

A New Variant of Glucosephosphate Isomerase Deficiency with Mild Haemolytic Anaemia

(GPI-MYTHO)

P.BOIVIN,

ISERUM U160, Hospital Beaujon, 92118 Clichy, France

 

Mild case

1977

EXCESSIVE HEPATIC GLYCOGEN STORAGE IN Glucosephosphate Isomerase Deficiency

University Children’s Hospital, Het Wilhemina Kinderziekenhuis, Utrecht, The Netherlands

Yes

8 year old mentally retarded girl was admitted in May 1974. She was suffering from severe generalized GPI type Utrecht. The most obvious symptoms were a severe hemolytic disorder, mental retardation, muscular fatigue

1975

A New Variant of Glucosephosphate Isomerase Deficiency

J.P.Van Biervliet

University Children’s Hospital, Het Wilhemina Kinderziekenhuis, Utrecht, The Netherlands

 

 

1975

Glucosephosphate Isomerase Deficiency in Dutch Family

J.P.Van Biervliet

University Children’s Hospital, Het Wilhemina Kinderziekenhuis, Utrecht, The Netherlands

Yes

8 year old mentally retarded girl, was admitted in May 1974. She was suffering from severe generalized GPI type Utrecht.  Symptoms were a severe hemolytic disorder, mental retardation, muscular fatigue

1975

Haematological studies in a new variant of glucosephosphate-  isomerase deficiency (GPI Utrecht)

J.P.Van Biervliet

University Children’s Hospital, Nieuwe Gracht 137,, Utrecht, The Netherlands

Yes

A splenectomy had failed to influence the cause of the hemolytic disorder

1974

Glucose phosphate isomerase deficiency with hereditary nonspherocytic hemolytic anemia

John J. Hutton, M.D

Department of Medicine, University of

Kentucky School of Medicine, Lexington, Ky. 40506.

Yes

Caucasian, female infant weighing 9 lb, 8 oz. She was pale at birth, became jaundiced and anemic, and required a blood transfusion at 16 days of age. During her first 2 years of life she received blood transfusions every 4 to 8 weeks because of repeated episodes of hemolysis with jaundice and abdominal pain.

1973

Electrophoretic and Kinetic Studies of Glucosephosphate Isomerase (GPI) in Two Different Japanese Families with GPI Deficiency

Third Department of Internal Medicine, Yamaguchi University School of Medicine, Ube, Yamaguchi 755, Japan

 

These findings indicated that both cases possess enzyme variants different from those previously reported in the literature. The first case was designated GPI "Narita" and the second, GPI

"Matsumoto."

1973

Fine Structure of the Spleen and Liver in GPI Deficiency Hereditary Nonspherocytic Hemolytic Anemia. Selective Reticulocyte Destruction as a Mechanism of Hemolysis

Noboru Matsumoto

Third Dep of Internal Medicine, Yamaguchi University School of Medicine, Ube

Yes

Some hematological improvement was obtained after splenectomy

1973

Glucosephosphate Isomerase (GPI) Hereditary Nonspherocytic Hemolytic Anemia. Report of the Second Case Found in Japanese

Third Department of Internal Medicine, Yamaguchi University School of Medicine, Ube, Yamaguchi 755, Japan

 

Mild case

1973

Glucosephosphate Isomerase (GPI) Hereditary Nonspherocytic Hemolytic Anemia. Report of the First Case Found in Japanese

Third Department of Internal Medicine, Yamaguchi University School of Medicine, Ube, Yamaguchi 755, Japan

 

Boy born 1970, was 2 years and 2 months old when the diagnosis of GPI was established. No neurological abnormality.

1968

Three Families with Unstable Hemoglobinopathies (Koln, Olmsted and Santa Ana Causing Hemolytic Anemia with Inclusion Bodies and Pigmenturia

 

Yes

Splenectomy relieved the anemia and ameliorated the clinical course in several patients [27-29], including two with hemoglobin K81n disease [27,30] . In one case the effect of splenectomy was transitory [31], and in others there was no apparent benefit [7,32-401]. Splenectorny was unquestionably beneficial in the affected members in our kindred.

  




Website Builder