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At least 19 recordsLinked to original sources
PubMed1977

Natural history of Hartnup disease.

Hartnup disease was diagnosed in 12 children and 3 of their 15 sibs in the course of routine urine screening of 6-week-old infants in New South Wales. These children were followed for up to 8 years, during which time there were only two clinical episodes which might be ascribed to Hartnup disease. The mental development of all the children was normal. 10 had height centiles less than the midparent height centiles, while 4 had centiles equal to or above the midparent centiles. The study shows that in children with Hartnup disease in Australia symptoms are very uncommon. Mental development is normal, and heights are possibly slightly below that expected. Hartnup disease has an incidence of approximately 1 in 33 000 in New South Wales.

Australia↗
PubMed1970

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

A severely affected case of Hartnup 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, beta-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.

Adult↗
PubMed2003

A clinicobiochemical study of tryptophan and other plasma and urinary amino acids in the family with Hartnup disease.

Two cases of Hartnup disease were diagnosed in a five member family. A changeable polymorph and severe clinical features of a 16 year old girl was described. Total plasma amino acids value was significantly decreased in the girl compared to the sum of plasma amino acids value in the brother, mother, father and to the summed maximal values of normal range. Intermediate aminoaciduria was also found with atypical amino acids pattern. Total plasma amino acids concentration was significantly reduced (27.20%) in the mother, while no significant decrease in the son (1.83%) and father (7.51%) were found compared to the summed maximal values of normal range. In the clinicaly healthy father, 38 years of age, a gross aminoaciduria with atypical pattern of amino acids was also found. Urinary amino acids concentration in the son and his mother were rather normal, although low concentration of eight amino acids was found in the mother's urine. Cerebrospinal fluid 5-hydroxyindoleacetic acid level was reduced in the girl.

Adolescent↗
PubMed1989

[Adult-onset Hartnup disease presenting with neuropsychiatric symptoms but without skin lesions].

Hartnup disease is an inborn abnormality of renal and intestinal transport involving the neutral amino acids. Intermittent pellagra-like rash, attacks of cerebellar ataxia and psychiatric disturbance are characteristic symptoms of this disease. We described here a patient with adult-onset Hartnup disease who presented unique neuropsychiatric symptoms but no dermatologic symptoms, and reported features of amino acids transport in this patient and his family. The patient, a man aged 37 years, was referred to us because of lasting daytime bruxism. He is the second child of healthy parents who are first cousin; his elder brother who has been mentally retarded became bed-ridden and died at 32 years of age. His younger brother is completely healthy. Although the patient's development in infancy has been slightly retarded, he completed compulsory 9-year education. At 29 years of age, he experienced episodes of diplopia, ataxic gait and insomnia, and at 33 years of age, of transient stupor. There had been no history of photosensitivity or dermatitis. On neurological examination, there were trunkal ataxia, increased muscular tone and decreased mental activity besides bruxism. These symptoms remained unchanged despite of several medications including trihexyphenidyl, diazepam, halloperidol, tiapride and sulpiride. Two months later, the patient became stuporous; bruxism and hypertonicity became exaggerated. Myerson's sign, sucking reflex and grasp reflex in both hand appeared. There was no dermal lesion. A cranial computed tomography revealed a small calcification in the right frontal subcortical region and a single photon emission tomography indicated possible bifrontal hypoperfusion. Electroencephalograms demonstrated non-specific slowing. Somatosensory evoked potentials and nerve conduction velocities were normal. There were constant indicanuria and amino-aciduria.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1976

Hartnup disease. Clinical, pathological, and biochemical observations.

Hartnup disease is a rare genetic disorder of amino acid transport associated with variable and intermittent clinical abnormalities. A family is described in which three siblings had an intermittently progressive neurological disease and two of the affected siblings had the Hartnup-pattern aminoaciduria. Neuropathological examination of one case showed severe diffuse atrophy, generalized neuronal loss in the cortex, and Purkinje cell loss in the cerebellum. In vivo and in vitro studies of intestinal amino acid transport in the surviving sibling indicated a partial defect in the transport of several neutral amino acids (tryptophan, alanine, serine, and methionine) with normal transport of other neutral amino acids (threonine, phenylalanine, histidine, tyrosine, and isoleucine). Transport of glycine, proline, hydroxyproline, and the basic amino acids appeared normal.

Adolescent↗
PubMed1972

Transport of dibasic amino acids, cystine, and tryptophan by cultured human fibroblasts: absence of a defect in cystinuria and Hartnup disease.

Transport of lysine, arginine, cystine, and tryptophan was studied in cultured skin fibroblasts from normal controls and from patients with cystinuria and Hartnup disease. Each of these amino acids was accumulated against concentration gradients by energy-dependent, saturable mechanisms. Lysine and arginine were each transported by two distinct processes which they shared with each other and with ornithine. In contrast, cystine was taken up by a different transport system with no demonstrable affinity for the dibasic amino acids. The time course and Michaelis-Menten kinetics of lysine and cystine uptake by cells from three cystinuric patients differed in no way from those found in control cells. Similarly, the characteristics of tryptophan uptake by cells from a child with Hartnup disease were identical to those noted in control cells. These findings indicate that the specific transport defects observed in gut and kidney in cystinuria and Hartnup disease are not expressed in cultured human fibroblasts, thus providing additional evidence of the important role that cellular differentiation plays in the regulation of expression of the human genome.

Adult↗
PubMed2004

Spontaneous scalp arteriovenous fistula in a child with hartnup disease.

PURPOSE: To report the endovascular treatment of a spontaneous scalp arteriovenous fistula (AVF) in a child with Hartnup disease. CASE REPORT: A 6-year-old girl with Hartnup disease presented with recurrent attacks of intense, migraine-like, right-sided headache; a tender, pulsatile small mass was observed in the scalp. Selective digital subtraction angiography revealed a high-flow scalp AVF fed by the frontal branch of the right superficial temporal artery draining via the scalp veins. Endovascular treatment was performed by direct puncture of the distal feeding artery and injection of 2 mL of a 50% mixture of N-butyl-cyanoacrylate and Lipiodol. Serial arteriograms performed 6 months and 2 years later documented complete resolution of the lesion. The patient has had no recurrence of clinical symptoms or local signs for recanalization. CONCLUSIONS: Scalp AVFs may progress in size, causing significantly disabling symptoms, particularly in children. We recommend endovascular treatment at the earliest possible stage.

Angiography↗
PubMed1969

Cellular transport of L-histidine in Hartnup disease.

The urinary excretion, the intestinal absorption, and the elimination of histidine from blood were studied in two patients with Hartnup disease. On standard diet the patients lost a great proportion of the dietary histidine in the urine, whereas the fecal loss was negligible. A high oral dose of L-histidine gave only a slight increase in plasma histidine and no increase in fecal histidine, but a considerable increase in the urinary histidine output. Intravenously administered L-histidine was eliminated more rapidly than in controls. The lack of increase in plasma histidine after the oral loading may be explained by the rapid elimination from the blood. This was mainly due to a rapid cellular uptake of histidine which is supposed to be a normal reaction of histidine-deprived cells. Thus the only obvious defect in the histidine transport in Hartnup disease is the reabsorption defect in the renal tubules. A generally impaired cellular transport of L-histidine is improbable.

Adolescent↗
PubMed1970

Intestinal absorption of two dipeptides in Hartnup disease.

The results of oral tolerance tests of two dipeptides and of their constitutent amino acids are compared in normal subjects and in a case of Hartnup disease. In the control subjects the rate of absorption of phenylalanine from phenylalanyl-phenylalanine and of tryptophan from glycyl-tryptophan was slower than after the equivalent amount of the free amino acids. Absorption of the two essential amino acids (tryptophan and phenylalanine) in the patient was almost zero after administration in the free form, but was much greater after the dipeptide. Results of experiments on absorption and hydrolysis of the two peptides in the rat small intestine are also reported. It is suggested that whereas normal subjects absorb essential amino acids by a dual mechanism of mucosal uptake of free amino acids and oligopeptides, nutrition in Hartnup disease is largely dependent on uptake of oligopeptides containing the amino acids affected by the intestinal transport defect of the disease.

Adult↗
PubMed1989

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

Tryptophan ethyl ester, a lipid-soluble tryptophan derivative, was used to bypass defective gastrointestinal neutral amino acid transport in a child with Hartnup disease. The child's baseline tryptophan concentrations in serum (20 +/- 6 microM) and cerebrospinal fluid (1.0 +/- 0.2 microM) were persistently less than 50% of normal values. Cerebrospinal fluid 5-hydroxyindoleacetic acid (5-HIAA), a serotonin metabolite, was also less than 50% of normal (21 +/- 2 ng/ml). Serum tryptophan concentrations increased only modestly and briefly after an oral challenge with 200 mg/kg of oral L-tryptophan, reflecting the absorptive defect. An oral challenge with 200 mg/kg of tryptophan ethyl ester resulted in a prompt increase in serum tryptophan to a peak of 555 microM. Sustained treatment with 20 mg/kg q6h resulted in normalization of serum (66 +/- 15 microM) and cerebrospinal fluid tryptophan concentrations (mean = 2.3 microM). Cerebrospinal fluid 5-HIAA increased to more normal concentrations (mean = 33 ng/ml). No toxicity was observed over an 8-mo period of treatment, chronic diarrhea resolved, and body weight, which had remained unchanged for 7 mo before ester therapy, increased by approximately 26%. We concluded that tryptophan ethyl ester is effective at circumventing defective gastrointestinal neutral amino acid transport and may be useful in the treatment of Hartnup disease.

Amino Acids↗
PubMedDate not supplied

Intermittent dystonia in Hartnup disease.

A 6-month-old girl developed intermittent dystonic posture of the legs and eczematous dermatitis without ataxia. Qualitative and quantitative urine amino acid testing confirmed the diagnosis of Hartnup disease. Cranial computed tomography, electroencephalogram, electromyogram/nerve conduction study, posterior tibial somatosensory evoked potentials, 24-hour electroencephalographic telemetry, and metrizamide myelogram were normal. Spinal fluid hydroxy-indoleacetic acid concentration was less than or equal to 2 S.D. of normal; oral tryptophan loading (70 mg/kg) resulted in a two-fold rise in cerebrospinal fluid 5-hydroxy-indoleacetic acid concentration. Tryptophan administered alone or with nicotinic acid failed to improve the dystonia; however, trihexyphenidyl (1-2 mg/kg/day) dramatically improved it. Hartnup disease should be considered in children with unexplained dystonia.

Brain Chemistry↗
PubMedDate not supplied

[Hartnup disease (report of 2 cases in one family)].

INTRODUCTION: The Hartnup mutation affects the amino acid transport system of the intestine and kidney used by a large group of neutral amino acids (monoamino-monocarboxylic acids) resulting in a characteristic pattern of neutral aminoaciduria [2, 5, 6]. METHODS AND PATIENTS: In this research clinical and neurological methods and a great number of laboratory tests were used. Patient 1. A 16-year-old girl, born in 1972, was a full-term newborn. Her psychomotor development was normal. She is the eldest of three children in the family. Till the age of 10 the girl was healthy, except for the mild skin disorders on uncovered parts of the body, face and hands, occurring in springtime almost every year. She had had two exacerbations of the disease. The first exacerbation lasted between the end of April and August 22, 1982. The second began in the middle of November 1987 and finished on May 31, 1988. A changeable and severe clinical feature in this girl was characterized by polymorphic, transient mainly cerebral symptoms, papilloedema with peripapillary haemorrhage and pellagra-like skin rash. At the beginning of the disease the left spastic haemiplegia with bilateral Babinski's reflex and diffuse brain oedema were observed. Signs of the upper motor neurone lesion and myoclonic jerks of limbs and face were most persistent during the first and second exacerbation of the disease. Dysinhibition phenomenon: mandibular, snout and palmomental reflexes were sometimes positive. Mental states at the time of hospitalization were changed and characterized by bradypsychic, torpid, disoriented in time and confused at the beginning of the disease. She had severe psychotic episodes during the second relapse of the disease. The symptoms and signs of the disease as well as pellagra-like skin rash resolved with nicotinamide therapy. Patient 2. A 38-year-old man; clinically healthy, with no skin lesions. A gross aminoaciduria was found in this case. However, the amino acids pattern was atypical. DISCUSSION: This new, rare disease was described [1] with complex and variable clinical symptoms, intermittent course, permanent aminoaciduria and other biochemical features. In our symptomatic patient diagnosis of Hartnup disease was established during the second exacerbation of the disease. CONCLUSION: Two cases of Hartnup disease, one symptomatic and one asymptomatic, were diagnosed in a five member family. A child in this family died at the age of 3.5 probably from Hartnup disease.

Adolescent↗
PubMed1990

[Clinical picture of Hartnup disease. Without urine amino acids or any other identified metabolic disorder (a new entity)].

Harthnup disease clinical picture without aminoaciduria or other identified metabolic disturb (New entity?). The authors present a patient with clinical picture superposed to the Hartnup disease's, a rare, autosomic and recessive metabolic disturbance, characterized by typical aminoaciduria consequent to tryptophan and other neutral aminoacids defective transport by jejunal mucous membrane and renal tubules, clinically expressed by photosensitive pellagra-like dermatitis, mental retardation and intermittent cerebellar ataxia. The laboratorial results did not confirm Hartnup aminoaciduria nor other identified metabolic change that justify his clinical manifestations.

Child↗
PubMed1994

Hartnup disease presenting in an adult.

A young woman presented with pellagra. Her symptoms were precipitated by prolonged lactation and increased activity. Dietary intake of niacin was within recommended guidelines. Chromatography of urinary amino acids was diagnostic of Hartnup disease, an inherited disorder usually presenting in childhood. Her symptoms resolved with oral nicotinamide.

Adult↗
PubMedDate not supplied

Acrodermatitis enteropathica-like eruptions in a child with Hartnup disease.

Acrodermatitis enteropathica-like eruptions, not related to zinc deficiency, have been rarely reported in some metabolic disorders. Reported patients usually had low levels of essential amino acids, particularly isoleucine. Here we report a girl who first presented with an acrodermatitis enteropathica-like eruption and eventually had the diagnosis of Hartnup disease with a normal isoleucine level. We discuss the probable cause of her skin lesions and the differential diagnosis with pellagra.

Acrodermatitis↗