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November 1980, Vol 134, No. 11 >
Article | November 1980

Argininosuccinicaciduria: The Hair Abnormality Revisited FREE

JOSEPH L. POTTER, MD, PHD; G. DEAN TIMMONS, MD; ANTHONY A. SILVIDI, PHD
Am J Dis Child. 1980;134(11):1095-1096. doi:10.1001/archpedi.1980.02130230073023.
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Argininosuccinicaciduria is a rare genetic error of the Krebs-Henseleit urea cycle due to the absence or deficiency of the enzyme argininosuccinate lyase and is associated with mental retardation, seizures, ataxia, and hepatomegaly. Hyperammonemia may or may not be present, but blood urea levels are always within normal limits. Abnormally fragile hair has been detected in about half of the reported cases, and in some, a morphologic hair alteration termed trichorrhexis nodosa has been observed.1 The nature of the hair defect has not been extensively studied, and tensile strength and other physical properties have been measured in only a single case, to our knowledge.2 Amino acid analysis of acid hydrolysates of our patient's hair revealed a reduction in cystine content to 50% of the control level, concomitant with a similar degree of reduction of values for tensile strength and Young's modulus. No relationship between the urea cycle block, the

REFERENCES

1 +
Shih VE:  Urea cycle disorders and other congenital hyperammonemic syndromes , in Stanbury JB, Wyngaarden JB, Fredrickson DS (eds): The Metabolic Basis of Inherited Disease , ed 4. New York, McGraw-Hill Book Co, 1978;, pp 362-386.
2 +
Potter JL, Timmons GD, West R, et al:  Arginosuccinicaciduria: The hair abnormality . Am J Dis Child 127:724-727, 1974;.
3 +
Hartlage PL, Coryell ME, Hall WK, et al:  Argininosuccinic aciduria: Perinatal diagnosis and early dietary management . J Pediatr 85:86-88, 1974;.
4 +
Coryell ME, Hall WK, Thevaos TG, et al:  A familial study of a human enzyme defect, argininosuccinic aciduria . Biochem Biophys Res Commun 14:307-312, 1964;.
5 +
Baden HP, Shih VE, cited by Shih VE:  Urea cycle disorders and other congenital hyperammonemic syndromes , in Stanbury JB, Wyngaarden JB, Fredrickson DS (eds): The Metabolic Basis of Inherited Disease , ed 4. New York, McGraw-Hill Book Co, 1978;, pp 362-386.
6 +
Gold RJM, Scriver CR:  The characterization of hereditary abnormalities of keratin: Clouston's ectodermal dysplasia , in Bergsma D (ed): Third Conference on the Clinical Delineation of Birth Defects: Part XII . Baltimore, Williams & Wilkins Co, 1971;, pp 91-95.
7 +
Brown AG:  Congenital hair defects , in Bergsma D (ed): Third Conference on the Clinical Delineation of Birth Defects: Part XII . Baltimore, Williams & Wilkins Co, 1971;, pp 52-68.
8 +
Porter PS:  The genetics of human hair growth , in Bergsma D (ed): Third Conference on the Clinical Delineation of Birth Defects: Part XII . Baltimore, Williams & Wilkins Co, 1971;, pp 69-85.

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References

1 +
Shih VE:  Urea cycle disorders and other congenital hyperammonemic syndromes , in Stanbury JB, Wyngaarden JB, Fredrickson DS (eds): The Metabolic Basis of Inherited Disease , ed 4. New York, McGraw-Hill Book Co, 1978;, pp 362-386.
2 +
Potter JL, Timmons GD, West R, et al:  Arginosuccinicaciduria: The hair abnormality . Am J Dis Child 127:724-727, 1974;.
3 +
Hartlage PL, Coryell ME, Hall WK, et al:  Argininosuccinic aciduria: Perinatal diagnosis and early dietary management . J Pediatr 85:86-88, 1974;.
4 +
Coryell ME, Hall WK, Thevaos TG, et al:  A familial study of a human enzyme defect, argininosuccinic aciduria . Biochem Biophys Res Commun 14:307-312, 1964;.
5 +
Baden HP, Shih VE, cited by Shih VE:  Urea cycle disorders and other congenital hyperammonemic syndromes , in Stanbury JB, Wyngaarden JB, Fredrickson DS (eds): The Metabolic Basis of Inherited Disease , ed 4. New York, McGraw-Hill Book Co, 1978;, pp 362-386.
6 +
Gold RJM, Scriver CR:  The characterization of hereditary abnormalities of keratin: Clouston's ectodermal dysplasia , in Bergsma D (ed): Third Conference on the Clinical Delineation of Birth Defects: Part XII . Baltimore, Williams & Wilkins Co, 1971;, pp 91-95.
7 +
Brown AG:  Congenital hair defects , in Bergsma D (ed): Third Conference on the Clinical Delineation of Birth Defects: Part XII . Baltimore, Williams & Wilkins Co, 1971;, pp 52-68.
8 +
Porter PS:  The genetics of human hair growth , in Bergsma D (ed): Third Conference on the Clinical Delineation of Birth Defects: Part XII . Baltimore, Williams & Wilkins Co, 1971;, pp 69-85.

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