Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The occurrence of chronic mucocutaneous candidiasis accompanying polyglandular autoimmune syndrome type I is reported in a female aged 13. Apart the candidiasis, since the age of 3, she had convulsions beginning at 6, cataract at 9, teeth abnormalities, and basal ganglia calcifications. Laboratory data confirmed the diagnosis of hypoparathyroidism. This picture was accompanied by intestinal malabsorption, leading to a state of progressive malnutrition, with intense hypoalbuminemia and anemia. Although the pathophysiology of malabsorption, in these cases, is still not clear, the therapeutic response to pancreatin, in the present case, suggested pancreatic insufficiency, reinforced by the normal d-xylose test and the small intestinal biopsy with inexpressive result.
 ...
PMID:[Polyglandular autoimmune type I syndrome with hypoparathyroidism, chronic mucocutaneous candidiasis and intestinal malabsorption]. 213 67

Sibling cases of familial vitamin E deficiency accompanied by ataxia, polyneuropathy and mental retardation were reported. Case 1 was a 37-year-old male who developed progressive gait disturbance, deformity of the feet and head tremor from childhood, after normal delivery and development of early childhood. On physical examination, he had cataract, high arched palate and pes cavus. Neurological examination revealed mental retardation (WAIS 68), scanning speech, muscular atrophy of the face and extremities with predominance in the lower limbs, absent Achilles tendon reflex, disturbance of superficial and deep sensation predominant in distal limbs, and marked gait ataxia. Ataxia was both cerebellar and sensory in nature. Laboratory data of the blood showed no significant abnormalities including blood glucose and vitamin B12 except a markedly low level of serum vitamin E. The brain CT scan revealed severe cerebellar atrophy and marked dilatation of the cisterna magna and the subarachnoid space around the cerebellum. Motor nerve conduction velocity in the leg was decreased. Biopsy specimen from the quadriceps muscle showed neurogenic atrophy. Sural nerve biopsy revealed decrease in large myelinated fibers with axonal degeneration and regeneration. Oral administration of alpha-tocopherol acetate, 600 mg per day, diminished ataxia significantly. Based on lysosomal enzyme activity in leukocytes, clinical and laboratory examination, lipidosis or spinocerebellar degeneration was excluded. Chronic lipid malabsorption or beta lipoprotein deficiency which can cause decrease in vitamin E absorption, was not recognized. On oral loading with 2 g of alpha-tocopherol acetate, the decrease rate of serum vitamin E was normal. Consequently the low vitamin E was considered to have resulted from selective impairment of vitamin E absorption.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[Familial idiopathic vitamin E deficiency associated with cerebellar atrophy]. 226 7

Selective adult-type hypolactasia, the main cause of primary malabsorption of lactose, shows considerable variation in terms of its symptoms, which mainly depend on the amount of milk consumption. The article discusses congenital lactase deficiency and familial lactose intolerance. Links between hypolactasia and non-specific abdominal complaints, coronary heart disease and cataract are presented. The decrease in lactase activity in the brush border of jejunal mucosa, associated with diseases of the mucosa or any other condition which damages the enterocytes, is discussed as a cause of secondary hypolactasia. It is shown that adult-type primary hypolactasia and selective lactose malabsorption represent a major problem in the everyday work of general practitioners, particularly in populations where hypolactasia is common. Therefore, the examination and treatment of non-selected patients with vague abdominal complaints is important in primary health care. As the need for calcium in humans is largely met by the intake of milk, the consumption of milk has to be in amounts that are tolerable for the individual.
 ...
PMID:Clinical picture of hypolactasia and lactose intolerance. 804 17

Bile acids represent the principal excretion pathway of cholesterol. Their synthesis involves hydroxylations of the sterol nucleus and shortening of the lateral chain transforming an highly insoluble and immiscible molecule in an hydrophilic and detergent one. Congenital defect of one of the enzymes of bile acid synthesis (26-alpha-hydroxylase) constitutes the etiology of cerebrotendinous xanthomatosis, associating degenerative disease of the central nervous system, cutaneous xanthomas and cataract; the degenerative process may be stopped by a substitutive therapy with chenodeoxycholic acid. In another syndrome characterised by a lack of peroxisomes (Zellweger disease and associated syndromes), some bile acid metabolites accumulate due to the enzymatic block. Some cases of malabsorption due to a congenital defect of bile sterol synthesis are reported; such a case was jointly investigated in Brussels and Groningen.
 ...
PMID:[Congenital deficiencies in bile acid synthesis: from diagnosis to treatment]. 850 58

An 18-year-old male presented to the ophthalmology department with bilateral total subluxated cataract. On systemic examination, he was found to have grossly short stature, multiple severe bony deformities, hypogonadism and partial adontia. Detailed work-up revealed a biochemical and radiologic picture consistent with osteomalacia, which had resulted from malabsorption secondary to celiac disease, confirmed histopathologically. To the best of our knowledge, this is the first reported case of bilateral cataract as the presenting feature of celiac disease. Malabsorption leading to hypocalcemia along with chronic diarrhea itself may have contributed to the development of bilateral cataract.
 ...
PMID:Bilateral total cataract as the presenting feature of celiac disease. 2085 73