Hartnup Disorder in a New England Family

Pomeroy, Joanne S.; Efron, Mary L.; Dayman, Jacqueline; Hoefnagel, D.

doi:10.1056/nejm196805302782207

Cited by 12 publications

(6 citation statements)

References 4 publications

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“…There are examples for scattered reports of possible heterozygote manifestations in a variety of other diseases. Examples are possible CNS disturbances in Finnish nonketotic hyperglycinemia (v. Wendt et al 1979); an increased irritability of the skin to sunlight in the Hartnup syndrome (Halvorsen & Halvorsen 1963, Pomeroy et al 1968); slight neurological disturbances in Refsum's disease (Barolin et al 1979); or signs of neuronal and myelin sheath degeneration in A-and hypo-P-lipoproteinemia (Andersen et al 1979). Since the classical report by Harris et al (1955) we know at least three types of cystinuria.…”

Section: Scattered Reports On Diseasesmentioning

confidence: 99%

Clinical consequences of heterozygosity for autosomal‐recessive diseases*,**

Vogel

1984

Clinical Genetics

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Heterozygotes of autosomal‐recessive diseases can often be recognized by special heterozygote tests, since enzyme activities are normally reduced in comparison with the normal homozygote state. In Drosophila, the majority of recessive lethal mutations shows a reduction of fitness in heterozygotes, whereas in a strong minority fitness of heterozygotes is increased. This review will be devoted to a consideration of the extent to which heterozygotes for a wide variety of nominally recessive diseases are subject either to an increased liability for common diseases or slight shifts of behavioral characteristics. The available evidence has been collected and will be discussed in three steps: 1. Most studies are available for phenylketonuria. For this group of diseases, a slight reduction of average ‐ especially verbal ‐ I.Q. in heterozygotes has been reported together with signs of a slightly increased cerebral irritability, a possible slight increase of risk for mental disease, and an increase of blood phenylalanine levels in stress situations. The PKU example is used to discuss methodological problems involved in such studies. 2. Other conditions for which relevant deviations in heterozygotes are possible or even likely include among others lipid storage diseases, microcephaly, myoclonus epilepsy, Wilson's disease, galaktokinase deficiency, homocystinuria, recessive myotonia and ataxia‐teleangiectasia (increased cancer risk). 3. Since heterozygotes for autosomal recessive diseases are common, it is possible that an appreciable fraction of “multifactorial” genetic liabilities for common, “constitutional” or mental disease might simply be due to heterozygosity for genes whose homozygous affects are already well known. By the same token, much of the “normal” genetic variability influencing cognitive performance (I.Q.) ‐ especially in the lower range ‐ and personality characteristics could also be caused by recessive genes in the heterozygous state.

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Section: Scattered Reports On Diseasesmentioning

confidence: 99%

Clinical consequences of heterozygosity for autosomal‐recessive diseases*,**

Vogel

1984

Clinical Genetics

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“…Multiple clinical forms ofvarying severity have been described (3)(4)(5). Many affected individuals appear to be totally asymptomatic (Hartnup disorder), while others suffer from an episodic pellagra-like illness with dermatitis, diarrhea, ataxia, and neuropsychiatric symptoms (Hartnup disease).…”

Section: Introductionmentioning

confidence: 99%

Circumvention of defective neutral amino acid transport in Hartnup disease using tryptophan ethyl ester.

Jonas¹,

Butler²

1989

J. Clin. Invest.

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“…Since the first description of the condition (Baron, Dent, Harris, Hart, and Jepson, 1956) 43 cases have been reported (Jepson, 1966;Dauth, Dietel, and Ebert, 1966;Nielsen, Vedso, and Zimmermann-Nielsen, 1966; Wong and Pillai, 1966;Seakins and Ersser, 1967;Oyanagi, Takagi, Kitabatake, and Nakao, 1967;Pomeroy, Efron, Dayman, and Hoefnagel, 1968). This number is based on the view that eight cases in the family reported by Oyanagi et al (1967) were homozygous for the anomaly, although six of these were completely asymptomatic.…”

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confidence: 99%

Studies on intestinal absorption of amino acids and a dipeptide in a case of Hartnup disease

Navab¹,

Asatoor²

1970

Gut

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SUMMARY A severely affected case ofHartnup disease is reported,where the patient responded rapidly to nicotinamide. This supports the view that all the clinical features, except reduced stature from general nutritional defect, are secondary to tryptophan and nicotinamide deficiency rather than to an unknown toxic factor. Severe malabsorption of both tryptophan and phenylalanine was demonstrated. The dipeptide carnosine was absorbed normally whereas when the two constituent amino acids, f-alanine and L-histidine, were ingested, absorption of the former was normal but that of the latter was grossly defective. The suggestion is advanced that in cases of Hartnup disease protein nutrition is maintained by intestinal uptake of amino acids as oligopeptides rather than as free amino acids. By contrast, both modes of absorption are probably important in normal subjects. Radiology of the small intestine is abnormal in Hartnup disease when a large amount of protein is admixed with the barium meal.Hartnup disease is an autosomal recessive hereditary disease which manifests clinically with a pellagrous rash and neuropsychiatric abnormalities and is associated with a diagnostic type of aminoaciduria. Impaired transport of certain neutral amino acids has been demonstrated in the proximal renal tubules (Cusworth

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Hartnup Disorder in a New England Family

Cited by 12 publications

References 4 publications

Clinical consequences of heterozygosity for autosomal‐recessive diseases*,**

Clinical consequences of heterozygosity for autosomal‐recessive diseases*,**

Circumvention of defective neutral amino acid transport in Hartnup disease using tryptophan ethyl ester.

Studies on intestinal absorption of amino acids and a dipeptide in a case of Hartnup disease

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