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TABLE OF CONTENTS
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| 1 | Preparing for Adulthood with Inherited Metabolic Disorders
Cheryl S. Lair, RD, LD, CSP
It is estimated that inherited metabolic disorders (IMD) occur in 1 in 1500
births(1) and span all ethnicities and genders. Early diagnosis has improved
outcome for many and progress in treatment of IMD and the recognition of
benefit of extended treatment has led to decreased morbidity, improved
quality of life, and increased longevity. With longevity come adult health
issues and age-related issues associated with or complicated by presence of
IMD. Treatment for adults with metabolic disease is less available than in
pediatrics. Individuals face the challenge of finding available and affordable
healthcare and the need for tenacity in maintaining a lifestyle that is not
necessarily congruent with the general population. |
| 2 | Adults with PKU - An HIstorical Perspective
Melanie M. Hunt, M.Ed., RDII/LD
Alkaptonuria, a condition
that involves phenylalanine and
tyrosine metabolism, was first diagnosed
by Boedeker in 1859.(2 p 2109) In
1902, Sir Archibald Garrod described
the autosomal recessive pattern of
inheritance and is credited with developing
the concept of inheritable metabolic
diseases. |
| 6 | Issues in Treating Adults with PKU
Barbara Goodin, MS RD
As our PKU population ages, we are
facing new challenges. There is a wide
range of compliance with diet restriction
in the adult population from maintenance
of full dietary restriction to being
off diet and eating high-protein foods.
There is a wide range of "side effects"
associated with high levels of phenylalanine
in the brain, which may be associated
with the changes seen on magnetic
resonance imaging thought to be
changes in myelin formation. |
| 11 | Status of Adults with PKU: A Survey
Kathryn Moseley, MS, RD
Information about the overall status of
adults with phenylketonuria (PKU) in the
United States is very limited. In an effort
to obtain a general sense of how adults
are doing, a survey directed toward
metabolic dietitians on the Metabolic
Listserv was conducted via Survey
Monkey. The Metabolic Listserv is an
online forum for health professionals
who treat individuals with metabolic disorders
such as PKU. |
| 19 | From the Editor
Cheryl Lair, RD/LD, CSP
I continue to be inspired with the level of
expertise of professionals in dietetics and the
apparent commitment and compassion evident in
our members. Lifetime careers in specialty areas
such as metabolic disease are becoming more a
trend than an exception. The benefit of so many
years of individual and collective experience can
only be a gain for the medical community and the
patients it serves.c |
Copyright 2010 Pediatric Nutrition Practice Group, ADA.
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FOR THIS ISSUE:EDITORCheryl Lair, RD/LD, CSP
Parkland Health and Hospital System
5201 Harry Hines Boulevard
Dallas, Texas 75235 Co-EDITORLori J. Bechard, MEd, RD, LDN
Clinical Nutrition Specialist III
Children's Hospital Boston
300 Longwood Avenue
Boston, MA 02115
LOOKING AHEADVolume 33, No. 3 will feature: Multidisciplinary Feeding Disorders Treatment
in a NICU
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