Literature DB >> 12137234

Growing older: the adult metabolic clinic.

P J Lee1.   

Abstract

Improvements in screening programmes, diagnostic tests and therapeutic interventions have all led to increasing numbers of children with inherited metabolic diseases surviving through childhood into adolescence and adulthood. These individuals are often able to integrate into society, but many have complex, multisystem problems that require ongoing care. Understanding of the long-term outcome of these disorders is scanty. Awareness of these conditions within the adult medical community is sadly limited and much of the good work of the paediatricians potentially could go to waste. This is often prevented by paediatricians remaining involved in patient care into the third decade and beyond. Appropriate resources to deal with the transition from the children's services to the adult sector are necessary, and appropriately trained medical and dietetic personnel are required to run these services. An adult inborn errors service needs to have close links with a feeding paediatric unit, as well as to integrate with other adult medical and surgical specialties, and to be supported by metabolic biochemical and molecular laboratories. This paper discusses the issues around this growing problem based upon experience gained working within a single centre dedicated to the care of adults and adolescents with inborn errors of metabolism.

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Year:  2002        PMID: 12137234     DOI: 10.1023/a:1015602601091

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


  19 in total

Review 1.  Transition from paediatric to adult care. Bridging the gaps or passing the buck?

Authors:  R Viner
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2.  Studies in maple syrup urine disease.

Authors:  C E DENT; R G WESTALL
Journal:  Arch Dis Child       Date:  1961-06       Impact factor: 3.791

3.  Influence of phenylalanine intake on phenylketonuria.

Authors:  H BICKEL; J GERRARD; E M HICKMANS
Journal:  Lancet       Date:  1953-10-17       Impact factor: 79.321

4.  Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease.

Authors:  C M Eng; N Guffon; W R Wilcox; D P Germain; P Lee; S Waldek; L Caplan; G E Linthorst; R J Desnick
Journal:  N Engl J Med       Date:  2001-07-05       Impact factor: 91.245

5.  Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma.

Authors:  P H Arn; E R Hauser; G H Thomas; G Herman; D Hess; S W Brusilow
Journal:  N Engl J Med       Date:  1990-06-07       Impact factor: 91.245

Review 6.  Patient education: can it maximize the success of therapy?

Authors:  T Golper
Journal:  Nephrol Dial Transplant       Date:  2001       Impact factor: 5.992

7.  The cost of treating Gaucher disease.

Authors:  E Beutler
Journal:  Nat Med       Date:  1996-05       Impact factor: 53.440

8.  Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease.

Authors:  N W Barton; R O Brady; J M Dambrosia; A M Di Bisceglie; S H Doppelt; S C Hill; H J Mankin; G J Murray; R I Parker; C E Argoff
Journal:  N Engl J Med       Date:  1991-05-23       Impact factor: 91.245

Review 9.  Inborn errors of metabolism and pregnancy.

Authors:  J H Walter
Journal:  J Inherit Metab Dis       Date:  2000-05       Impact factor: 4.982

10.  Vitamin B12-dependent methylmalonicaciduria: amino acid toxicity, long chain ketonuria, and protective effect of vitamin B12.

Authors:  Y E Hsia; A C Lilljeqvist; L E Rosenberg
Journal:  Pediatrics       Date:  1970-10       Impact factor: 7.124

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  17 in total

1.  Genetic counseling in a busy pediatric metabolic practice.

Authors:  Jessica N Hartley; Cheryl R Greenberg; Aizeddin A Mhanni
Journal:  J Genet Couns       Date:  2010-09-14       Impact factor: 2.537

2.  Pregnancy issues in inherited metabolic disorders.

Authors:  Philip J Lee
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

3.  Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada.

Authors:  Monica F Lamoureux; Kylie Tingley; Jonathan B Kronick; Beth K Potter; Alicia K J Chan; Doug Coyle; Linda Dodds; Sarah Dyack; Annette Feigenbaum; Michael Geraghty; Jane Gillis; Cheryl Rockman-Greenberg; Aneal Khan; Julian Little; Jennifer MacKenzie; Bruno Maranda; Aizeddin Mhanni; John J Mitchell; Grant Mitchell; Anne-Marie Laberge; Murray Potter; Chitra Prasad; Komudi Siriwardena; Kathy N Speechley; Sylvia Stockler; Yannis Trakadis; Lesley Turner; Clara Van Karnebeek; Kumanan Wilson; Pranesh Chakraborty
Journal:  JIMD Rep       Date:  2015-02-26

4.  Transition of young adults with phenylketonuria from pediatric to adult care.

Authors:  Ulrike Mütze; Annika Roth; Johannes F W Weigel; Skadi Beblo; Christoph G Baerwald; Peter Bührdel; Wieland Kiess
Journal:  J Inherit Metab Dis       Date:  2011-02-09       Impact factor: 4.982

5.  Young adults with MSUD and their transition to adulthood: psychosocial issues.

Authors:  Wendy Packman; Indira Mehta; Samantha Rafie; Jayanthi Mehta; Mariana Naldi; Kim Hart Mooney
Journal:  J Genet Couns       Date:  2012-02-17       Impact factor: 2.537

6.  Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors.

Authors:  E Martín-Hernández; P J Lee; A Micciche; S Grunewald; R H Lachmann
Journal:  J Inherit Metab Dis       Date:  2009-07-23       Impact factor: 4.982

7.  Quality of life in adult patients with glycogen storage disease type I: results of a multicenter italian study.

Authors:  Annalisa Sechi; Laura Deroma; Sabrina Paci; Annunziata Lapolla; Francesca Carubbi; Alberto Burlina; Miriam Rigoldi; Maja Di Rocco
Journal:  JIMD Rep       Date:  2013-12-21

8.  Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study.

Authors:  Annalisa Sechi; Laura Deroma; Annunziata Lapolla; Sabrina Paci; Daniela Melis; Alberto Burlina; Francesca Carubbi; Miriam Rigoldi; Maja Di Rocco
Journal:  J Inherit Metab Dis       Date:  2012-05-05       Impact factor: 4.982

9.  Social outcome in treated individuals with inherited metabolic disorders: UK study.

Authors:  M Bhat; C Haase; P J Lee
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.750

10.  Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU).

Authors:  Eva Simon; Martin Schwarz; Judith Roos; Nico Dragano; Max Geraedts; Johannes Siegrist; Gudrun Kamp; Udo Wendel
Journal:  Health Qual Life Outcomes       Date:  2008-03-26       Impact factor: 3.186

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