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Hartnup Disease

Introduction

How the mutation causes disease

Skin Eruptions

Photosensitivity

SLC6A19

transcription

mRNA

Protein

translation

}

Hartnup

Disease

Diarrhoea

Tryptophan

Intestinal Lumen

Cytoplasm

Niacin

Tryptophan

NADP

Mental Retardation

Visual Distubances

= Symptoms:

  • Skin lesions
  • Rash
  • Pigmentation changes
  • Diarrhoea
  • Photosensitivity

Photophobia

Cerebral Ataxia

Aminoaciduria

Thomas Mitchell

Jesse Bulley

References

1.Baron, D.N., et al., Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features. Lancet, 1956. 271(6940): p. 421-8.

2.Broer, S., J.A. Cavanaugh, and J.E. Rasko, Neutral amino acid transport in epithelial cells and its malfunction in Hartnup disorder. Biochem Soc Trans, 2005. 33(Pt 1): p. 233-6.

3.Galadari, E., S. Hadi, and K. Sabarinathan, Hartnup disease. Int J Dermatol, 1993. 32(12): p. 904.

4.Seow, H.F., et al., Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. Nat Genet, 2004. 36(9): p. 1003-7.

5.Kleta, R., et al., Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nat Genet, 2004. 36(9): p. 999-1002.

6.Zheng, Y., et al., A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder. Int J Dermatol, 2009. 48(4): p. 388-92.

7.Nassl, A.M., et al., Amino acid absorption and homeostasis in mice lacking the intestinal peptide transporter PEPT1. Am J Physiol Gastrointest Liver Physiol, 2011. 301(1): p. G128-37.

8.Milovanovic, D.D., A clinicobiochemical study of tryptophan and other plasma and urinary amino acids in the family with Hartnup disease. Adv Exp Med Biol, 2003. 527: p. 325-35.

9.Scriver, C.R., et al., The Hartnup phenotype: Mendelian transport disorder, multifactorial disease. Am J Hum Genet, 1987. 40(5): p. 401-12.

10.Camargo, S.M., D. Bockenhauer, and R. Kleta, Aminoacidurias: Clinical and molecular aspects. Kidney Int, 2008. 73(8): p. 918-25.

Autosomal Recessive

Diagnosis and treatment

Inheritance, penetrance & epidemiology

Diverse clinical symptoms

High-protein diet

Renal aminoaciduria

HPLC

Sunlight avoidance

  • neutral amino acids
  • indicanuria

Observed reduced clinical penetrance

Nicotinamide supplementation

Admin of tryptophan

%

- attacks become less frequent with age

- onset in early childhood

Race

Sex

Age

Morbidity and Mortality

  • Severe CNS involvement
  • Malnutrition

Frequency (US)

  • 1 in 30 000 births
  • 1 in 24 000 population

Bess Stewart

Tenele Smith

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