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Familial hyperinsulinism
by Yael Rosenberg, RN
Description
Also known as Persistent Hyperinsulinemic Hypoglycemia of Infancy
(PHHI) this is a predominately autosomal recessive genetic disorder
(it can be inherited in an autosomal dominant trait though at a much
lower frequency.) This disorder manifests itself with significant
elevated levels of the hormone insulin which regulates blood sugar
levels. Familial Hyperinsulinism’s onset may be immediately after
birth, or appear as mild hypoglycemia weeks or months after birth.
The severity of this disorder differs from one individual to the
next
The inherited form of this condition is a result most frequently of
the mutation of the ABCC8 gene accounting for 45% of the cases,
KCNJ11 less frequently, and the others account for a very small
percentage. Approximately 50% of the cases are of unknown origin.
The cause for the disease in the Ashkenazi Jewish population has
been two founder mutations of the ABCC8 gene located on chromosome
11.
Symptoms
Frequent episodes of hypoglycemia – low blood sugar
In infants and young children hypoglycemic episodes are accompanied
by:
• Lethargy – lack of energy
• Irritability
• Poor feeding
• Poor tone
With repeated episodes of low blood sugar the risk of the following
complications significantly increases:
• Intellectual disability
• Difficulty breathing
• Seizures
• Coma
Incidence and Carriers
CarrierFrequency: 1 in 66 for two founder mutations of gene
ABCC8 in Jews of Ashkenazi descent.
Approximately 45% of affected individuals have mutations in ABCC88
Disease Frequency: 1 in 18,000 in Jews of Ashkenazi descent
1 in 50,000 in the European population
1 in 2,500 in population with high rates of marriages between
relatives
Treatment
• Infusions of glucose
• Medications to decrease release of insulin
• Surgical removal of most of the pancreas (For infants that cannot
be stabilized with medical treatment)
Testing
Blood and urine samples taken during an episode of spontaneous
hypoglycemia can provide a definitive diagnosis
Genetic testing for specific mutations (will not predict severity of
illness)
Laboratories and Screening
The following laboratories offer genetic testing for Canavan
Disease:
• United States
• Israel
• Europe
UNITED STATES
Athena Diagnostics Inc
Reference Lab
Worcester, MA
Phone: (800) 394-4493
Phone: (508) 756-2886 (For outside the US and Canada)
Fax: (508) 753-5601
Web:
http://www.athenadiagnostics.com
Genzyme Genetics
Molecular Diagnostic Laboratory
3400 Computer Drive
Westborough, MA 01581
Phone: (508) 898-9001
Fax: (508) 389-5549
Toll Free: (800) 255-7357
Genzyme Genetics General Inquiries:
Phone: (800) 357-5744
Fax: (508) 389-5549
Client Services - Reproductive Genetics
Phone: (800) 848-4436
Mount Sinai Genetic Testing Laboratory (DNA Division)
The Mount Sinai Medical Center
One Gustave L. Levy Place
New York, NY 10029-6574
Phone: (212) 241-3055
Fax: (212) 241-9467
Email:
rochelle.pakier@mssm.edu
Seattle Children's Hospitall
Department of Laboratories
A-6901
4800 Sand Point Way NE
Seattle, WA 98105
Phone: (206) 987-2617
Fax: (206) 987-3840
Email:
LabClientServices@seattlechildrens.org
ISRAEL
Hadassah Medical Center
Endocrinology and Metabolism Service
Jerusalem, Israel
Director: Benjamin Glaser, MD
Phone: (+972) 2-677-6788
Fax: (+972) 2-643-7940
Email: beng@cc.huji.ac.il
Shaare Zedek Medical Center
Medical Genetics Institute
Jerusalem, Israel
Phone: (+972) 2-666-6435
Fax: (+972) 2-666-6935
Director: Prof. Ephrat Levy-Lahad
Email: liorab@szmc.org.il
Soroka University Medical Center
Genetics Laboratories
Beer-Sheva , Israel
Phone: (+972) 8-640-02588
Web:
http://www.clalit.org.il/soroka/Content/Content.asp?CID=43&u=420
EUROPE
• Germany
• Netherlands
GERMANY
Center for Nephrology and Metabolic Disorders
Laboratory for molecular genetics
Werner-Seelenbinder-Str. 73
D-02943 Weißwasser
Phone: (+49) 3576-2155-22
Fax: (+49) 3576-2155-24
Contact: Mato Nagel, MD
Phone: (+49) 3576-2878-22
Fax: (+49) 3576-3879-44
Email: nagel@moldiag.de
Centogene GmbH
Schillingalee 68
18057 Rostock
Germany
Phone: (+49) 381-203652-0
Fax: (+49) 381-203652-19
Email:
office@centogene.com
Diagenom GmbH
Robert-Koch-Str. 10
D-18059 Rostock
Germany
Phone: (+49) 381 7022750
Fax: (+49) 381 7022759
Email: mail@diagenom.de
Laboratory for Molecular Diagnostics
Labor-MVZ Westmecklenburg
Schwerin, Mecklenburg-Vorpommern, Germany
Phone: (+49) 38-564-424300
Fax: (+49) 38-564-424233
Email:
manuela.hesse@labor-schwerin.de
NETHERLANDS
Academic Medical Centre, University of Amsterdam
DNA Diagnostics Laboratory
Amsterdam, Netherlands
Contact: Marcel M.A.M. Mannens, PhD
Phone: (+31) 20-566-7899
Fax: (+31) 205-669-9689
Email: kg dna@amc.uva.nl
Resources and More
Congenital Hyperinsulinism Center
The Children’s Hospital of Philadelphia
Phone: ( 215) 590-7682
Email:
hyperinsulin@email.chop.edu
Congenital Hyperinsulinism Center
Cook Children's Medical Center
801 Seventh Ave.
Fort Worth, TX 76104
Phone: (682) 885-4000
Web:
https://www.cookchildrens.org
Congenitalhikids.org
3434 Yogi Berra Way
Round Rock , TX 78665
Phone: (512) 244-1994
Email:
contact@congenitalhikids.org
Congenital Hyperinsulinism International
CHI
P.O. Box 135
Glen Ridge, NJ 07028
USA
Phone: (973) 544-8372
Support Groups
Congenital Hyperinsulinism International
CHI
P.O. Box 135
Glen Ridge, NJ 07028
USA
Phone: (973) 544-8372
Web: http://www.Sur1.org
A website for families of children with hyperinsulinism
Climb (Children Living with Inherited Metabolic Diseases)
Family Services
Toll free: (+44) 800-652 3181 (open 10am – 4pm BST)
Phone: (+44) 845-241-2172
Email: fam.svcs@climb.org.uk
Madisons Foundation
P.O. Box 241956
Los Angeles, CA 90024
Phone: (310) 264-0826
Fax: (310) 264-4766
Email:
getinfo@madisonsfoundation.org
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