Chapter 17: Disorders of Amino Acid Metabolism, Organic Acidaemias and Urea Cycle Disorders

71 Pages·2014·1.38 MB·English

Chapter 17: Disorders of Amino Acid
Metabolism, Organic Acidaemias and
Urea Cycle Disorders
1. Garrod AE The incidence of alkaptonuria: a study in chemical individuality. Lancet,
1902, 2 1616−20.

2. Garrod AE The Croonian lectures on inborn errors of metabolism. Lancet, 1908, 2
73−9.

3. Johannsen WL The genotype conception of heredity. American Naturalist, 1911, 45
129−59.

4. Beadle GW, Tatum EL The genetic control of biochemical reactions in Neurospora.
Proc Natl Acad Sci, 1941, 27 499−506.

5. Pauling L, Itano HA, Singer SJ et al. Sickle cell anemia, a molecular disease.
Science, 1949, 110 543−8.

6. Ingram VM Gene mutations in human hemoglobin: the chemical difference between
normal and sickle hemoglobin. Nature, 1957, 180 326−8.

7. Genetics Home Reference www.ghr.nlm.nih.gov/handbook/howgeneswork.
Accessed 21 July 2013.

8. Donlon J, Levy H, Scriver CR Hyperphenylalaninemia: phenylalanine hydroxylase
deficiency. In: Valle D, Beaudet AL, Vogelstein B et al. (eds) The Online Metabolic
and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 2008, Ch. 77,
pp. 1−14. http://dx.doi.org/10.1036/ommbid.97 Accessed 1 February 2013.

9. Knox WE Phenylketonuria. In: Stanbury JB, Wyngaarden JB, Fredrickson DS (eds)
The Metabolic Basis of Inherited Disease, 1st edn. New York: McGraw-Hill, 1960,
pp. 321−83.

10. Hoeksma M, Reijngoud DJ, Pruim J et al. Phenylketonuria: high plasma
phenylalanine decreases cerebral protein synthesis. Mol Genet Metab, 2009, 96
177−82.

11. de Groot MJ, Hoeksma M, van Rijn M et al. Relationships between lumbar bone
mineral density and biochemical parameters in phenylketonuria patients. Mol Genet
Metab, 2012, 105 566−70.

12. Meli C, Bianca S Dietary control of phenylketonuria. Lancet, 2002, 360 2075−6.

13. Walter J, Lachmann RJ, Burgard P Hyperphenylalanineamia. In: Saudubray JM,
van den Berghe G, Walter JH (eds) Inborn Metabolic Diseases Diagnosis and
Treatment, 5th edn. Berlin: Springer-Verlag, 2012, pp. 252−64.

14. Ozalp I, Coşkun T, Tokatli A et al. Newborn PKU screening in Turkey: at present
and organization for future. Turk J Pediatr, 2001, 43 97−101.

15. Loeber JG Neonatal screening in Europe; the situation in 2004. J Inherit Metab Dis,
2007, 30 430−8. Erratum in J Inherit Metab Dis, 2008, 31 469.

16. Teebi AS Introduction: genetic diversity among Arabs. In: Teebi AS (ed.) Genetic
Disorders Among Arab Populations. New York: Oxford University Press, 2010, pp.
3−34.

17. Zhan JY, Qin YF, Zhao ZY Neonatal screening for congenital hypothyroidism and
phenylketonuria in China. World J Pediatr, 2009, 5 136−9.
18. Jiang J, Ma X, Huang X et al. A survey for the incidence of phenylketonuria in
Guangdong, China. Southeast Asian J Trop Med Public Health, 2003, 34(Suppl 3)
185.

19. Hutchesson AC, Bundey S, Preece MA et al. A comparison of disease and gene
frequencies of inborn errors of metabolism among different ethnic groups in the
West Midlands, UK. J Med Genet, 1998, 35 366−70.

20. National Institutes of Health Consensus Development Panel. National Institutes of
Health Consensus Development Conference Statement: Phenylketonuria: screening
and management. October 16−18, 2000. Pediatrics, 2001, 108 972.

21. Guldberg P, Henriksen KF, Sipilä I et al. Phenylketonuria in a low incidence
population: molecular characterisation of mutations in Finland. J Med Genet, 1995,
32 976−8.

22. Hardelid P, Cortina-Borja M, Munro A et al. The birth prevalence of PKU in
populations of European, South Asian and sub-Saharan African ancestry living in
South East England. Ann Hum Genet, 2008, 72(Pt 1) 65−71.

23. Aoki K, Ohwada M, Kitagawa T Long-term follow-up study of patients with
phenylketonuria detected by the newborn screening programme in Japan. J Inherit
Metab Dis, 2007, 30 608.

24. Feillet F, van Spronsen FJ, MacDonald A et al. Challenges and pitfalls in the
management of phenylketonuria. Pediatrics, 2010, 126 333−41.

25. Blau N, van Spronsen FJ, Levy HL Phenylketonuria. Lancet, 2010, 376 1417−27.

26. Weglage J, Pietsch M, Feldmann R et al. Normal clinical outcome in untreated
subjects with mild hyperphenylalaninemia. Pediatr Res, 2001, 49 532−6.

27. van Spronsen FJ Mild hyperphenylalaninemia: to treat or not to treat. J Inherit
Metab Dis, 2011, 34 651−6.
28. Hanley WB Non-PKU mild hyperphenylalaninemia (MHP) − the dilemma. Mol
Genet Metab, 2011, 104 23−6.

29. Blau N, Hennermann JB, Langenbeck U et al. Diagnosis, classification, and
genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Mol Genet
Metab, 2011, 104(Suppl) S2−9.

30. Williams RA, Mamotte CD, Burnett JR Phenylketonuria: an inborn error of
phenylalanine metabolism. Clin Biochem Rev, 2008, 29 31−41.

31. Opladen T, Hoffmann GF, Blau N An international survey of patients with
tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia. J Inherit
Metab Dis, 2012, 35 963−73.

32. Kaufman S Studies on the mechanism of the enzymatic conversion of phenylalanine
to tyrosine. J Biol Chem, 1959, 234 2677.

33. Smith I The hyperphenylaninaemias. In: Lloyd JK and Scriver CR (eds) Genetic
and Metabolic Disease in Paediatrics. London: Butterworths, 1985, pp.166−210.

34. Kwok SC, Ledley FD, DiLella AG et al. Nucleotide sequence of a full-length
complementary DNA clone and amino acid sequence of human phenylalanine
hydroxylase. Biochemistry, 1985, 24 556−61.

35. PAH mutation database: www.biopku.org. Accessed 1 April 2013.

36. Heintz C, Cotton RG, Blau N Tetrahydrobiopterin, its mode of action on
phenylalanine hydroxylase, and importance of genotypes for pharmacological
therapy of phenylketonuria. Hum Mutat, 2013, 34 927−36.

37. Zschocke J, Haverkamp T, Møller LB Clinical utility gene card for phenylketonuria.
Eur J Hum Genet, 2012, 20: doi:10.1038/ejhg.2011.172. Accessed 22 February
2013.
38. Mitchell JJ Phenylalanine hydroxylase deficiency. In: Pagon RA, Bird TD, Dolan
CR et al. (eds) GeneReviews™ (Internet). Seattle, WA: University of Washington,
1993−2000. Latest review January 2013.

39. PKU Expert Group Report 2010. Newborn Screening in the UK 2010. UK Newborn
Screening Programme Centre. www.newbornbloodspot.nhs.uk.

40. van Spronsen FJ, Burgard P The truth of treating patients with phenylketonuria after
childhood: the need for a new guideline. J Inherit Metab Dis, 2008, 31 673−9.

41. Abadie V, Berthelot J, Feillet F et al. Association française pour le dépistage et la
prévention des handicaps de l'enfant (AFDPHE) [Management of phenylketonuria
and hyperphenylalaninemia: the French guidelines]. Arch Pediatr, 2005, 12
594−601.

42. Burgard P, Bremer HJ, Bührdel P et al. Rationale for the German recommendations
for phenylalanine level control in phenylketonuria 1997. Eur J Pediatr, 1999, 158
46−54.

43. Medical Research Council Working Party on Phenylketonuria. Recommendations
on the dietary management of phenylketonuria. Arch Dis Child, 1993, 68 426−7.

44. Fonnesbeck CJ, McPheeters ML, Krishnaswami S et al. Estimating the probability
of IQ impairment from blood phenylalanine for phenylketonuria patients: a
hierarchical meta-analysis. J Inherit Metab Dis, 2012, Epub AOP.

45. Albrecht J, Garbade SF, Burgard P Neuropsychological speed tests and blood
phenylalanine levels in patients with phenylketonuria: a meta-analysis. Neurosci
Biobehav Rev, 2009, 33 414−21.

46. Christ SE, Huijbregts SC, de Sonneville LM et al. Executive function in early-treated
phenylketonuria: profile and underlying mechanisms. Mol Genet Metab, 2010,
99(Suppl 1) S22−32.
47. Waisbren SE, Noel K, Fahrbach K et al. Phenylalanine blood levels and clinical
outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol
Genet Metab, 2007, 92 63−70.

48. Janzen D, Nguyen M Beyond executive function: non-executive cognitive abilities in
individuals with PKU. Mol Genet Metab, 2010, 99(Suppl 1) S47−51.

49. VanZutphen K, Packman W, Sporri L et al. Executive functioning in children and
adolescents with phenylketonuria. Clin Genet, 2007, 72 13−18.

50. Leuzzi V, Pansini M, Sechi E et al. Executive function impairment in early-treated
PKU subjects with normal mental development. J Inherit Metab Dis, 2004, 27
115−25.

51. Dawson C, Murphy E, Maritz C et al. Dietary treatment of phenylketonuria: the effect
of phenylalanine on reaction time. J Inherit Metab Dis, 2011, 34 449−54.

52. Anjema K, van Rijn M, Verkerk PH et al. PKU: high plasma phenylalanine
concentrations are associated with increased prevalence of mood swings. Mol Genet
Metab, 2011, 104 231−4.

53. Huijbregts SC, de Sonneville LM, Licht R et al. Sustained attention and inhibition of
cognitive interference in treated phenylketonuria: associations with concurrent and
lifetime phenylalanine concentrations. Neuropsychologia, 2002, 40 7−15.

54. Moyle JJ, Fox AM, Arthur M et al. Meta-analysis of neuropsychological symptoms
of adolescents and adults with PKU. Neuropsychol Rev, 2007, 17 91−101.

55. Anastasoaie V, Kurzius L, Forbes P et al. Stability of blood phenylalanine levels and
IQ in children with phenylketonuria. Mol Genet Metab, 2008, 95 17−20.

56. Pietz J, Dunckelmann R, Rupp A et al. Neurological outcome in adult patients with
early-treated phenylketonuria. Eur J Pediatr, 1998, 157 824−30.
57. Brunner RL, Berch DB, Berry H Phenylketonuria and complex spatial visualization:
an analysis of information processing. Dev Med Child Neurol, 1987, 29 460−8.

58. Huijbregts SC, De Sonneville LM, Van Spronsen FJ et al. Motor function under
lower and higher controlled processing demands in early and continuously treated
phenylketonuria. Neuropsychology, 2003, 17 369−79.

59. Waisbren SE, Brown MJ, de Sonneville LM et al. Review of neuropsychological
functioning in treated phenylketonuria: an information processing approach. Acta
Paediatr Suppl, 1994, 407 98−103.

60. White DA, Nortz MJ, Mandernach T et al. Age-related working memory impairments
in children with prefrontal dysfunction associated with phenylketonuria. J Int
Neuropsychol Soc, 2002, 8 1−11.

61. Channon S, Mockler C, Lee P Executive functioning and speed of processing in
phenylketonuria. Neuropsychology, 2005, 19 679−86.

62. Huijbregts SC, de Sonneville LM, van Spronsen FJ et al. The neuropsychological
profile of early and continuously treated phenylketonuria: orienting, vigilance, and
maintenance versus manipulation-functions of working memory. Neurosci Biobehav
Rev, 2002, 26 697−712.

63. ten Hoedt AE, Maurice-Stam H, Boelen CC et al. Parenting a child with
phenylketonuria or galactosemia: implications for health-related quality of life. J
Inherit Metab Dis, 2011, 34 391−8.

64. Janos AL, Grange DK, Steiner RD et al. Processing speed and executive abilities in
children with phenylketonuria. Neuropsychology, 2012, 26 735−43.

65. Channon S, German E, Cassina C et al. Executive functioning, memory, and learning
in phenylketonuria. Neuropsychology, 2004, 18 613−20.

66. Anderson PJ, Wood SJ, Francis DE et al Are neuropsychological impairments in
children with early-treated phenylketonuria (PKU) related to white matter
abnormalities or elevated phenylalanine levels? Dev Neuropsychol, 2007, 32
645−68.

67. Smith I, Knowles J Behaviour in early treated phenylketonuria: a systematic review.
Eur J Pediatr, 2000, 159(Suppl 2) S89−93.

68. Antshel KM, Waisbren SE Developmental timing of exposure to elevated levels of
phenylalanine is associated with ADHD symptom expression. J Abnorm Child
Psychol, 2003, 31 565−74.

69. Brumm VL, Grant ML The role of intelligence in phenylketonuria: a review of
research and management. Mol Genet Metab, 2010, 99(Suppl 1) S18−21.

70. Koch R, Burton B, Hoganson G et al. Phenylketonuria in adulthood: a collaborative
study. J Inherit Metab Dis, 2002, 25 333−46.

71. Waisbren SE, Levy HL Agoraphobia in phenylketonuria. J Inherit Metab Dis, 1991,
14 755−64.

72. Weglage J, Grenzebach M, Pietsch M et al. Behavioural and emotional problems in
early-treated adolescents with phenylketonuria in comparison with diabetic patients
and healthy controls. J Inherit Metab Dis, 2000, 23 487−96.

73. Simon E, Schwarz M, Roos J et al. Evaluation of quality of life and description of
the sociodemographic state in adolescent and young adult patients with
phenylketonuria (PKU). Health Qual Life Outcomes, 2008, 6 25.

74. Bosch AM, Maurice-Stam H, Wijburg FA et al. Remarkable differences: the course
of life of young adults with galactosaemia and PKU. J Inherit Metab Dis, 2009, 32
706−12.

75. Landolt MA, Nuoffer JM, Steinmann B et al. Quality of life and psychologic
adjustment in children and adolescents with early treated phenylketonuria can be
normal. J Pediatr, 2002, 140 516−21.
76. Bhat M, Haase C, Lee PJ Social outcome in treated individuals with inherited
metabolic disorders: UK study. J Inherit Metab Dis, 2005, 28 825−30.

77. Cotugno G, Nicolò R, Cappelletti S et al. Adherence to diet and quality of life in
patients with phenylketonuria. Acta Paediatr, 2011, 100 1144−9.

78. Thimm E, Schmidt LE, Heldt K et al. Health-related quality of life in children and
adolescents with phenylketonuria: unimpaired HRQoL in patients but feared school
failure in parents. J Inherit Metab Dis, 2013, Jan 8. Accessed 22 February 2013.

79. Bik-Multanowski M, Didycz B, Mozrzymas R et al. Quality of life in noncompliant
adults with phenylketonuria after resumption of the diet. J Inherit Metab Dis, 2008,
31(Suppl 2) S415−18.

80. Gassió R, Campistol J, Vilaseca MA et al. Do adult patients with phenylketonuria
improve their quality of life after introduction/resumption of a phenylalanine-
restricted diet? Acta Paediatr, 2003, 92 1474−8.

81. Belanger-Quintana A, Martinez-Pardo M Physical development in patients with
phenylketonuria on dietary treatment: a retrospective study. Mol Genet Metab,
2011, 104 480−4.

82. Dokoupil K, Gokmen-Ozel H, Lammardo AM et al. Optimising growth in
phenylketonuria: current state of the clinical evidence base. Clin Nutr, 2012, 31
16−21.

83. Huemer M, Huemer C, Möslinger D et al. Growth and body composition in children
with classical phenylketonuria: results in 34 patients and review of the literature. J
Inherit Metab Dis, 2007, 30 694−9.

84. Verkerk PH, van Spronsen FJ, Smit GP et al. Impaired prenatal and postnatal growth
in Dutch patients with phenylketonuria. The National PKU Steering Committee.
Arch Dis Child, 1994, 71 114−18.
85. Dhondt JL, Largillière C, Moreno L et al. Physical growth in patients with
phenylketonuria. J Inherit Metab Dis, 1995, 18 135−7.

86. Schaefer F, Burgard P, Batzler U et al. Growth and skeletal maturation in children
with phenylketonuria. Acta Paediatr, 1994, 83 534−41.

87. Holm VA, Kronmal RA, Williamson M et al. Physical growth in phenylketonuria: II.
Growth of treated children in the PKU collaborative study from birth to 4 years of
age. Pediatrics, 1979, 63 700−7.

88. White JE, Kronmal RA, Acosta PB Excess weight among children with
phenylketonuria. J Am Coll Nutr, 1982, 1 293−303.

89. McBurnie MA, Kronmal RA, Schuett VE et al. Physical growth of children treated
for phenylketonuria. Ann Hum Biol, 1991, 18 357−68.

90. Burrage LC, McConnell J, Haesler R et al. High prevalence of overweight and obesity
in females with phenylketonuria. Mol Genet Metab, 2012, 107 43−8.

91. Albersen M, Bonthuis M, de Roos NM et al. Whole body composition analysis by
the BodPod air-displacement plethysmography method in children with
phenylketonuria shows a higher body fat percentage. J Inherit Metab Dis, 2010, Jun
24. [Epub ahead of print]

92. Scaglioni S, Verduci E, Fiori L et al. Body mass index rebound and overweight at 8
years of age in hyperphenylalaninaemic children. Acta Paediatr, 2004, 93
1596−600.

93. Robertson LV, McStravick N, Ripley S et al. Body mass index in adult patients with
diet-treated phenylketonuria. J Hum Nutr Diet, 2013, Apr 3. [Epub ahead of print]

94. Rocha JC, van Spronsen FJ, Almeida MF et al. Dietary treatment in phenylketonuria
does not lead to increased risk of obesity or metabolic syndrome. Mol Genet Metab,
2012, 107 659−63.