Argininosuccinic aciduria (trichorrhexis nodosa)

General: Deficient argininosuccinase (A Sase) deficiency; 818g66i both sexes affected; prevalent in females; autosomal recessive inheritance.

Ocular: Friable tufted eyelashes and eyebrows; visual field defects; cataract.

Clinical: Clinical findings vary widely; mental retardation; seizures; ataxia; hepatomegaly; friable hair (trichorrhexis nodosa); may have citrullinemia; hyperammonemia; increased argininosuccinic acid (most pronounced in the cerebrospinal fluid).

Cecil RL. Cecil textbook of medicine, 16th ed. Philadelphia: WB Saunders, 1982: 1105.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

Gerrits GP, et al. Argininosuccinic aciduria: Clinical and biochemical findings in three children with the late onset form, with special emphasis on cerebrospinal fluid findings of amino acids and pyrimidines. Neuropediatrics 1993; 24:15-l8.

Widhalm K, et al. Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapy. Pediatrics 1992; 89[6 Pt 2]: 1182-l184.