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Results for “HARTNUP DISEASE”

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PubMed1986

Photosensitivity in infants and children.

Childhood photosensitivity diseases may encompass many of the diseases seen in adults. In addition, there are a number of photosensitivity diseases that are exclusive to children, including both acquired and congenital or genetic syndromes. These syndromes and their etiologies, when known, are discussed.

Bloom Syndrome↗
PubMedDate not supplied

Inherited disorders of amino acid transport in relation to the kidney.

Cystinuria was first described in 1810. Since the initial description, a group of renal cellular transport deficit diseases has been characterized. The study of genetic diseases that create a specific aminoaciduria has expanded our knowledge of cellular structure, cellular transport, and intracellular concentration gradients. A review of the theories and experimental data obtained through investigations of the renal aminoacidurias are presented.

Amino Acid Metabolism, Inborn Errors↗
PubMed1976

[Intestinal enzymopathies of children (author's transl)].

In recent years it has been successfully demonstrated that, in relation to congenital metabolic abnormalities, every enzyme of the gastro-intestinal tract may be absent or inactive.. In serious diseases of the intestinal tract, secondary inactivation of numerous enzymes may result. In this comprehensive presentation the pathology of the disaccharidases, the peptidases and lypolysis is described, the physiology being gone into briefly in each case. Furthermore, all known disturbances of absorption of sugar, aminoacids and fats are briefly dealt with. Finally, congenital chloridorrhea is described.

Abetalipoproteinemia↗
PubMed1986

Maternal Hartnup disorder.

We describe childbearing in two unrelated women with Hartnup disorder, an inborn error of neutral amino acid transport. Two living, unaffected offspring born after untreated and uneventful pregnancies, one from each woman, have had normal growth and development. The older one had an IQ of 92 at 4 years while the younger one at 4 months had a Development Quotient of 107 on the Mental Scale and 102 on the Motor Scale. A third offspring had a neural tube defect complicated by hydrocephalus and died at 3 months. This mother had a family history of major congenital anomalies. We think that this experience supports the view that Hartnup disorder in the mother, unlike phenylketonuria, does not have an adverse effect on the fetus. The presence of normal ratios of the amino acid concentrations between maternal and umbilical veins in one mother also suggests that placental transport of free amino acids, unlike renal transport, may not be reduced in maternal Hartnup disorder.

Adult↗
PubMed2001

Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder.

Hartnup disorder is an autosomal recessive phenotype involving a transporter for monoamino-monocarboxylic acids. Genetic analysis of the mouse model mapped its locus to human chromosome 11q13 (8). We report here the results of linkage analysis in two Japanese first cousin-marriage families. In the first family, the proband had Hartnup disorder and his deceased older brother was reported to have had typical Hartnup symptoms. The younger brother of the proband was shown to have decreased tryptophan absorption by oral loading test. In the second family, a 6-year-old girl, the proband, had specific hyperaminoaciduria. DNA was isolated from either blood samples or umbilical cord stumps. Genome-wide screening by homozygosity mapping was conducted. Taking into account that the older brother was affected and the younger brother was a carrier in the first family, homozygosity mapping (LOD score = 3.55) and GENEHUNTER (LOD score = 3.28) locates the locus of the Hartnup disorder on 5p15.

Child↗
PubMed1973

Genetic screening.

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Amino Acid Metabolism, Inborn Errors↗
PubMed1967

The aminoacidurias.

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Amino Acid Metabolism, Inborn Errors↗