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Dihydrolipoamide
Dehydrogenase Deficiency (DLD)
by Yael Rosenberg, RN
Description
Dihydrolipoamide dehydrogenase deficiency (DLD) also known as Maple
Syrup Urine Disease Type 3 is an autosomal recessive disease
affecting the bodys ability to breakdown certain amino acids and
their byproducts. Located on chromosome 7 the DLD gene is
responsible for instructing the cell to produce a protein named
dihydrolipoamide dehydrogenase. This specific protein is part of a
group of enzymes that work together to breakdown certain molecules
that produce energy. The gene mutations change the structure of the
E3 component thereby preventing enzymatic breakdown of essential
amino acids. The buildup of the amino acids is detrimental to the
cells especially those in the nervous system. The mortality rate is
high. Onset of symptoms may be in infancy or in adulthood.
Symptoms
In the first few weeks or months of life patients may be free of any
symptoms except for incidences of low blood sugar.
As they grow older the infant develops:
Progressively worsening neurological issues
Diminished muscle tone
Dystonia
Ataxia
Microcephaly
Seizures
Developmental delay and Mental retardation
Failure to thrive
Liver enlargement
Frequent vomiting and abdominal pain
Blindness
Coma
Incidence and Carriers
Carrier Frequency: 1 in 96 in individuals of Jewish Ashkenazi
decent
Detection rate (for two specific mutations): 95% of carriers in the
Ashkenazi Jewish population
In the general population this very rare disease has a prevalence of
1/1,000,000.
Treatment
Currently this is no cure or treatment for DLD.
Testing
Mutation analysis for DLD
Newborn screening
Prenatal testing
Laboratories and Screening
The following laboratories offer genetic testing for AAT Deficiency:
United States
Israel
Canada
India
Europe
UNITED STATES
Medical Genetics Laboratories
Baylor College of Medicine
One Baylor Plaza, NAB 2015
Houston, TX 77030
Phone: (800) 411-GENE (4363)
Fax: (713) 798-2787
Email: genetictest@bcm.edu
Client Services Manager
Alejandra Quick
Phone: (713) 798-7656
Fax: (713) 798-2787
Email: ahquick@bcm.edu
Emory University School of Medicine
Emory Molecular Genetics Laboratory
Atlanta, GA
Phone: (404) 778-8500
Fax: (404) 778-8559
Email: eglgc@emory.edu
GeneDx
207 Perry Parkway
Gaithersburg, MD 20877
Phone: (301) 519-2100
Fax: (301) 519-2892
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
University Hospitals
The Center for Genetics Laboratory
10524 Euclid Avenue, 6th Floor
Cleveland, OH 44106
Phone: (216) 983-1134
Fax: (216) 983-1144
Web: http://www.chglab.com
ISRAEL
GGA Galil Genetic Analysis Ltd
P.O.B. 3664
Kazerin, Hatzafon, Israel 12900
Phone: (+972) 4-900-7100
Fax: (+972) 4-900-7111
Email: gga@gga.org.il
Pronto Diagnostic Ltd.
19A Habarzel Street
Ramat Hachayal
Tel Aviv, Israel 69710
Phone: (+972) 73-312-6155
Fax: (+972) 73-212-6144
Email:
info@prontodiagnostics.com
EUROPE
Spain
SPAIN
Universidad Autonoma de Madrid
Centro de Diagnostico de Enfermedades Moleculares
Madrid, Spain
Director: Magdalena Ugarte, PhD
Genetic Counselor: Dr Lourdes Ruiz Desviat, PhD
Phone: (+34) 911-964-566
Fax: (+34) 914-974-863
Email: lruiz@cbm.uam.es
Support Groups
Maple Syrup Urine Disease Family Support Group
Phone: (740) 548-4475
Email: dbulcher@aol.com
MSUD Family Support Group
24806 SR 119
Goshen, IN 46526
Phone: (219) 862-2992
Fax: (219) 862-2012
Email: msd-support@juno.com
Web:
http://www.msud-support.org
Maple Syrup Urine Disease Family Support Group (MSUDFSG)
1106 Old Line Road
Manheim, PA 17545
Phone: (717) 665-5961
Climb (Children Living with Inherited Metabolic Diseases)
Family Services
Toll free: (+44) (0)800 652 3181 (open 10am 4pm BST)
Phone: (+44) (0) 845-241-2172
Email: fam.svcs@climb.org.uk
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