INFORMATION:

At the present time, patients may be referred for evaluation of:

1. Glut-1 DS (glucose transporter type-1 deficiency syndrome)
2. MELAS (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes)
3. MERRF (mitochondrial encephalomyopahy with ragged-red fibers)
4. Pyruvate dehydrogenase deficiency
5. Pyruvate carboxylase deficiency
6. Ion channel disorders
7. Genetic and metabolic encephalopathies of unknown origin
8. Genetic and metabolic myopathies of unknown origin

There may be fees associated with the evaluation.

Upon review of this information, if warranted, further documentation and blood samples of the patient and immediate relatives may be requested. None of the items received will be returned. Therefore, only copies should be provided.

A. GENERAL REFERRALS (EXCLUDING Glut-1 DS)

All referrals must be made using the following forms and signed by patients and/or parents and the referring physician. They should be sent via regular mail to the address listed below. Please read the form instructions and conditions carefully.

Download Physician Referral form (do not use for Glut-1 DS) [MS Word File | PDF File]

B. Glut-1 DS REFERRALS

Prior contact with us is required. No documents or samples will be accepted without our prior approval. Please call either the lab or one of the coordinators listed below before sending any information. After contact has been made and approval acquired, referrals may be sent via regular mail or electronically to the address listed below. Please read the forms instructions and conditions carefully.

Download Physician Referral form (Glut-1 DS only) [MS Word File | PDF File]

Contact Information:

Colleen Giblin Laboratories
Columbia University Irving Medical Center
Vagelos College of Physicians and Surgeons (VP&S), Room 5-443
630 W. 168 Street
New York, NY 10032

Laboratory phone:

212-305-8245

Laboratory fax:

212-305-0431

Clinical Coordinator:

Kristin Engelstad
Phone: 212-305-6834 || Fax: 212-342-2893
E-mail: ke4@cumc.columbia.edu

What is Glut- Deficiency Syndrome (Glut-1 DS)

Disease characteristics:

Glucose transporter type 1 deficiency syndrome (Glut1-DS) is characterized by infantile seizures refractory to anticonvulsants, followed by deceleration of head growth, delays in mental and motor development, spasticity, ataxia, dysarthria, opsoclonus, and other paroxysmal neurologic phenomena, often occurring prior to meals. Affected infants appear normal at birth following an uneventful pregnancy and delivery. Birth weight and Apgar scores are normal. Seizures usually begin between age one and four months. Apneic episodes and abnormal episodic eye movements simulating opsoclonus may precede the onset of seizures by several months. Five seizure types occur: generalized tonic or clonic, myoclonic, atypical absence, atonic, and unclassified. The frequency of seizures varies among affected individuals. Varying degrees of cognitive impairment, ranging from learning disabilities to severe mental retardation, are characteristic.

Diagnosis/testing

The diagnosis of Glut1-DS is established in neurologically impaired individuals with 1) reduced cerebrospinal fluid (CSF) glucose concentration (hypoglychorrhachia) 2) low ratio of CSF glucose concentration to blood glucose concentration. Molecular genetic testing is available on a clinical basis.

» Current Clinical Studies

LABORATORY & CLINICAL RESEARCH:

Laboratory Research

a. Molecular basis of cerebral energy utilization and failure

The Colleen Giblin Laboratories, in the context of the Division of Pediatric Neurology at the Columbia University Irving Medical Center, enjoy a distinguished tradition of metabolic disease research and discovery. The Laboratories and the Division also remain at the forefront of investigative and clinical excellence in other areas such as sickle cell encephalopathy, pediatric brain tumors, pediatric epilepsy, storage diseases, fetal neurotoxicity and functional neuroimaging. Diseases like Reye syndrome, glucose transporter deficiency (Glut-1 DS), carnitine deficiency, pyruvate dehydrogenase deficiency and pyruvate carboxylase deficiency, among other mitochondrial disorders, were first identified/treated by members of the Division.

An unusually large patient base comprising referrals from every part of the world is available for metabolic research. A tissue culture bank containing some 1,000 samples with accompanying clinical descriptions has been established by Dr. De Vivo and constitutes a unique investigational resource.

Our efforts are currently devoted to the central steps of energy metabolism and integrate molecular and clinical aspects, a research paradigm that will be adopted by most institutions in the future.

Projects include:

1. The molecular genetics, pathogenesis, diagnosis and therapy of Glut-1 DS. The Laboratories serve as the major referral center for diagnosis and mutation identification in the world and carry out natural history studies and therapeutic trials.
2. Pyruvate dehydrogenase function, regulation, and deficiency. The identification of modulatory genes involved in the function of this crucial metabolic process, aided by the molecular study of patients and families with uncommon forms of pyruvate dehydrogenase deficiency, is under way.
3. The molecular genetics, pathogenesis and clinical forms of Pyruvate carboxylase deficiency.
4. The natural history and therapy of the syndrome of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS), a prototype mitochondrial disease.

Patients participating in these NIH-sponsored research projects travel to the site of our laboratories and take part in functional brain imaging and neuropsychological assessment techniques, as well as other research related study procedures being developed in conjunction with the Laboratories.

b. Molecular excitability disorders

This research program was developed in response to the great expansion and renewed attention these disorders have experienced since the advent of molecular genetics and the patch clamp, two major tools used in combination at the Laboratories. Diseases of interest include epilepsy, arrhythmia, genetic myopathies and neurotoxicity.

The Giblin Laboratories add the expertise of scientists interested in ion channel structure, function and pharmacological modification to the well-established tradition of clinical study and discovery of excitability disorders of muscle, nerve, and brain at the Neurological Institute.

Clinical Research

The clinical aspect of this research program benefits from the availability of the Irving Institute for Clinical and Translational Research, an NIH-funded investigational resource where patients and their families are studied and followed. Patients are also seen at our affiliated space in the Spinal Muscular Atrophy Clinical Research Center. Involvement of basic and clinical researchers in group discussions of patient assessment and management is strongly encouraged, in order to cross-fertilize participating scientists and clinicians and to nurture the exchange of ideas from all traditional disciplines. Opportunities for interaction with other groups interested in excitability from molecular, cellular, systems or cognitive perspectives are emphasized.
» NHS Study
» Glut-1 Study