Skip to main content
SpringerLink
Log in

Disorders of Amino Acid Metabolism

  • Chapter
Dermatology

  • 1442 Accesses

Abstract

The inherited disorders of amino acid metabolism usually result from a missing enzyme or coenzyme which is essential for the breakdown or transport of an amino acid or a group of related amino acids. Some of the disorders have quite specific cutaneous changes, as a variety of amino acids are essential for various skin functions, such as the manufacture of melanin (Chap. 26). In other amino acid disorders, the cutaneous signs are less specific, so that the patient may present with dermatitis and failure to thrive. It is often hard to decide to what extent the skin changes are related to a specific amino acid defect and to what extent they are secondary to malnutrition. Most often the precursor compound that is not adequately converted spills over into the urine, rather than being stored in tissues. Thus, some designate these disorders aminoacidurias.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 74.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Bibliography

Phenylketonuria

  • Burton BK (1998) Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics 102:E69

    Article  PubMed  CAS  Google Scholar 

  • De Freitas O, Izumi C, Lara MG et al. (1999) New approaches to the treatment of phenylketonuria. Nutr Rev 57:65 – 70

    Article  PubMed  Google Scholar 

  • Fölling A (1934) Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezilität. Hoppe Seylers Z Physiol Chem 227:169 – 176

    Article  Google Scholar 

  • Nogva MP, Kaufmann M, Halperin A (1992) Scleroderma-like skin indurations in a child with phenylketonuria: a clinicopathologic correlation and review of the literature. J Am Acad Dermatol 26:329 – 333

    Article  Google Scholar 

  • Penrose LS (1998) Phenylketonuria — a problem in eugenics. Ann Hum Genet 62:193 – 202

    Article  PubMed  CAS  Google Scholar 

Tyrosinemia

  • Al-Hemidan AI, al-Hazzaa SA (1995) Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review. Ophthalmic Genet 16:21 – 26

    Article  PubMed  CAS  Google Scholar 

  • Dubois J, Garel L, Patriquin H et al. (1996) Imaging features of type 1 hereditary tyrosinemia: a review of 30 patients. Pediatr Radiol 26:845 – 851

    Article  PubMed  CAS  Google Scholar 

  • Hanhart E (1947) Neue Sonderformen von Keratosis palmoplantaris, u. a. eine regelmäßig-dominante mit systematisierten Lipomen, ferner zwei einfach-rezessive mit Schwachsinn und z. T. Hornhautveränderungen des Auges (Ektodermalsyndrom). Dermatologica 94:286–303

    Article  PubMed  CAS  Google Scholar 

  • Holme E, Lindstedt S (1995) Diagnosis and management of tyrosinemia type I. Curr Opin Pediatr 7:726–732

    PubMed  CAS  Google Scholar 

  • Rabinowitz LG, Williams LR, Anderson CE et al. (1995) Painful keratoderma and photophobia: hallmarks of tyrosinemia type II. J Pediatr 126:266 – 269

    Article  PubMed  CAS  Google Scholar 

  • Richner H (1938) Hornhautaffektionen bei Keratoma palmare et plantare hereditarium. Klin Monatbl Augenheilkd 10:580–588

    Google Scholar 

  • Tanguay RM, Jorquera R, Poudrier J et al. (1996) Tyrosine and its catabolites: from disease to cancer. Acta Biochim Pol 43:209 – 216

    PubMed  CAS  Google Scholar 

Hartnup Syndrome

  • Baron DN, Dent CE, Harris H et al. (1956) Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal aminoaciduria and other bizarre biochemical features. Lancet II: 421 – 428

    Article  Google Scholar 

  • Galadari E, Hadi S, Sabarinathan K (1993) Hartnup disease. Int J Dermatol 32:904

    Article  PubMed  CAS  Google Scholar 

  • Milovanovic DD, Milovanovic L, Stankovic B et al. (1991) D-Tryptophan and its metabolites in a family with Hartnup disease. Adv Exp Med Biol 294:669 – 674

    PubMed  CAS  Google Scholar 

  • Oakley A, Wallace J (1994) Hartnup disease presenting in an adult. Clin Exp Dermatol 19:407–408

    Article  PubMed  CAS  Google Scholar 

  • Schmidtke K, Endres W, Roscher A et al. (1992) Hartnup syndrome, progressive encephalopathy and allo-albumin-aemia. A clinico-pathological case study. Eur J Pediatr 151: 899–903

    Article  PubMed  CAS  Google Scholar 

Alkaptonuria and Ochronosis

  • Albers SE, Brozena SJ, Glass LF et al. (1992) Alkaptonuria and ochronosis: case report and review. J Am Acad Dermatol 27:609–614

    Article  PubMed  CAS  Google Scholar 

  • Dom K, Pittevils T (1997) Ochronotic arthropathy: the black hip. Case report and review of the literature. Acta Orthop Belg 63:122–125

    PubMed  CAS  Google Scholar 

  • Gutzmer R, Herbst RA, Kiehl P et al. (1997) Alkaptonuric ochronosis: report of two affected brothers. J Am Acad Dermatol 37:305 – 307

    Article  PubMed  CAS  Google Scholar 

  • Kneebone TS, Seiner AJ (1995) Ochronosis and alkaptonuria. Case report and literature review. J Am Podiatr Med Assoc 85:554–555

    PubMed  CAS  Google Scholar 

  • Reddy DR, Prasad VS (1998) Alkaptonuria presenting as lumbar disc prolapse: case report and review of literature. Spinal Cord 36:523 – 524

    Article  PubMed  CAS  Google Scholar 

  • Touart DM, Sau P (1998) Cutaneous deposition diseases, part II. J Am Acad Dermatol 39:527 – 544

    Article  PubMed  CAS  Google Scholar 

  • Touart DM, Sau P (1998) Cutaneous deposition diseases, part II. J Am Acad Dermatol 39:545 – 546

    Google Scholar 

  • Virchow R (1866) Ein Fall von allgemeiner Ochronose der Knorpel und knorpelähnlichen Teilen. Arch Pathol Anat 37:212

    Article  Google Scholar 

Argininosuccinic Aciduria

  • Allen JD, Cusworth CD, Dent CE et al. (1958) Disease, probably inhereditary, characterized by severe mental deficiency and constant growth abnormality of aminoacidic metabolism. Lancet 1:182

    Article  Google Scholar 

  • Asai K, Ishii S, Ohta S et al. (1998) Fatal hyperammonaemia in argininosuccinic aciduria following enflurane anaesthesia. Eur J Pediatr 157:169 – 170

    PubMed  CAS  Google Scholar 

  • Mandell R, Packman S, Laframboise R et al. (1996) Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia. Prenat Diagni 6:419–424

    Article  Google Scholar 

  • Worthington S, Christodoulou J, Wilcken B et al. (1996) Pregnancy and argininosuccinic aciduria. J Inherit Metab Dis 19:621–623

    Article  PubMed  CAS  Google Scholar 

Homocystinuria

  • De Franchis R, Sperandeo MP, Sebastio G et al. (1998) Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria. Eur J Pediatr 157:67–70

    Article  Google Scholar 

  • Dettmeyer R, Varchmin-Schultheiss K, Madea B (1998) Intracranial plasma cell granuloma and homocystinuria. Pathol Res Pract 194:205 – 208

    Article  PubMed  CAS  Google Scholar 

  • Carson NAJ, Neill D (1962) Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Arch Dis Child 37:505–513

    Article  PubMed  CAS  Google Scholar 

  • Pietrzik K, Bronstrup A (1997) Causes and consequences of hyperhomocyst(e)inemia. Int J Vitam Nutr Res 67:389 – 395

    PubMed  CAS  Google Scholar 

  • Singh H (1997) Selections from current literature: homocysteine: a modifiable risk factor for cardiovascular disease. Fam Pract 14:335 – 339

    Article  PubMed  CAS  Google Scholar 

  • Townend J, O’Sullivan J, Wilde JT (1998) Hyperhomo-cysteinaemia and vascular disease. Blood Rev 12:23 – 34

    Article  PubMed  CAS  Google Scholar 

Prolidase Deficiency

  • Arata J, Umemura S, Yamamoto Y et al. (1979) Prolidase deficiency. Arch Dermatol 114:62 – 67

    Article  Google Scholar 

  • Arata J, Hatakenaka K, Oono T (1986) Effect of topical application of glycine and proline on recalcitrant leg ulcers of prolidase deficiency. Arch Dermatol 122:626 – 627

    Article  PubMed  CAS  Google Scholar 

  • Mihigan A, Graham-Brown RAC, Burns DA et al. (1989) Prolidase deficiency. A case report and literature review. Br J Dermatol 121:405 – 409

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Dermatology and Allergology, Ludwig Maximilians University, Frauenlobstraße 9-11, D-80337, Munich, Germany

    Prof. Dr. med. Dr. h.c.mult. Otto Braun-Falco (Emeritus Professor and Chairman), Prof. Dr. med. Gerd Plewig (Professor and Chairman) & Walter H. C. Burgdorf M.D. (Clinical Lecturer)

  2. Department of Dermatology and Venerology, University of Lübeck, Ratzeburger Allee 160, D-23562, Lübeck, Germany

    Prof. Dr. med. Helmut H. Wolff (Professor and Chairman)

Authors
  1. Prof. Dr. med. Dr. h.c.mult. Otto Braun-Falco
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Prof. Dr. med. Gerd Plewig
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Prof. Dr. med. Helmut H. Wolff
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Walter H. C. Burgdorf M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

Copyright information

© 2000 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Braun-Falco, O., Plewig, G., Wolff, H.H., Burgdorf, W.H.C. (2000). Disorders of Amino Acid Metabolism. In: Dermatology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-97931-6_39

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-97931-6_39

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-97933-0

  • Online ISBN: 978-3-642-97931-6

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation