Vitamin-Responsive Genetic Abnormalities

Mudd, S. Harvey

doi:10.1007/978-1-4613-9934-6_1

Cited by 10 publications

(2 citation statements)

References 115 publications

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“…The exact thiamine-related biochemical abnormalities in thiamine-dependent anemia therefore remains to be more definitely delineated, but a thiamine dependency state is not in doubt, at least as far as the anemia is concerned. In this regard, the disorder is similar to other recognized vitamin dependencies or vitamin responsive inborn errors of metabolism [14][15][16]. Whether a thiamine dependency state underlines the various clinical manifestations present in the DIDMOAD syndrome remains speculative at the present time [12], and further studies to define the exact metabolic relationships are needed.…”

Section: Discussionmentioning

confidence: 80%

Thiamine Dependent Anemia in Didmoad (Wolfram) Syndrome: Further Studies and Report of Two Additional Cases

Al-Fawaz

Al‐Herbish²,

Al-Jurayyan³

et al. 1992

Ann Saudi Med

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IM Al-Fawaz, AS Al-Herbish, NAM Al-Jurayyan, AM Abo-Bakr, Thiamine Dependent Anemia in Didmoad (Wolfram) Syndrome: Further Studies and Report of Two Additional Cases. 1992; 12(3): 309-312 The DIDMOAD syndrome includes diabetes mellitus (DM) and optic atrophy (OA), variously associated with diabetes insipidus (DI), sensorineural deafness (D), dilatation of the urinary tract, and other minor abnormalities. Historically, the association of diabetes mellitus (DM) with optic atrophy (OA) was first described by Von Graeffe in 1858 as quoted by Fishman and Ehrlich [1]. Thereafter, in 1938, Wolfram [2] described a family of eight siblings, four of whom had DM and OA; three of the four affected siblings subsequently developed neurosensory hearing losses; and later, two developed neurogenic bladders. Since then, over 100 cases of this syndrome have been described in the literature and analysis of multiple pedigrees revealed an autosomal recessive mode of inheritance [1,2].The akined but less common triad of thiamine responsive anemia, diabetes mellitus, and sensorineural deafness has been described so far in only 14 patients [3][4][5][6][7][8][9][10][11][12]. We describe two additional patients (sister and brother) both of whom presented with thiamine responsive anemia, diabetes mellitus, and sensorineural deafness. Case Report Case 1A 5½-year-old Yemeni girl was initially seen in a primary care clinic at the age of two years because of unsatisfactory growth and pallor. Hematological tests at the time revealed that she was anemic and an iron therapeutic trial was exhibited but without benefit. During a follow-up visit at three years of age, her random blood glucose level was noted to be high at 14.8 mmol/L and she was then admitted for further work-up. During admission, insulin therapy was started after studies showed an elevated fasting blood glucose concentration (8.8 mmol/L) and an abnormal oral glucose tolerance test result. She was maintained on two daily doses of insulin, five units of NPH insulin plus two units of regular insulin in the morning and two units of NPH insulin in the evening. At five years of age, she developed bilateral sensorineural deafness confirmed by auditory evoked responses and audiometry. Her physical examination revealed a pale and deaf girl who was not in distress. Her weight was 15 kg (5th percentile) and her height 101 cm (< 5th percentile). There were several hyperpigmented cafe-au-lait-like spots on her trunk and extremities measuring 0.5 to 1 cm in diameter. Ophthalmic tests including electroretinography (ERG) and flash visual evoked potential (FVEP) revealed optic subatrophy mainly involving the right eye. The remainder of her physical examination was unremarkable.Investigation of her anemia revealed a hemoglobin of 7.5 g/dl, hematocrit 21.8%, MCV 90.4 fl, MCH 31.2 pg, MCHC 34.5 g/dl, platelets 194 × 10 9 /L and leukocyte count 6.6 × 10 9 /L. The leukocyte differential was: neutrophils 23%, eosinophils 4%, monocytes 3%, and lymphocytes 70%. The peripheral blood smear showed seve...

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Section: Discussionmentioning

confidence: 80%

Thiamine Dependent Anemia in Didmoad (Wolfram) Syndrome: Further Studies and Report of Two Additional Cases

Al-Fawaz

Al‐Herbish²,

Al-Jurayyan³

et al. 1992

Ann Saudi Med

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show abstract

“…The distinction between these disorders is established according to laboratory parameters such as serum methylmalonic acid levels, homocysteine levels, and clinical phenotype. Megadoses of multivitamins and vitamin B12 induce a profound improvement in infantile tremor syndrome [5] . A deficiency in vitamin E results in ataxia; additional vitamins that may induce neurological symptoms are vitamin K (Central nervous system bleeding) and vitamin C (pseudoparalysis).…”

Section: Introductionmentioning

confidence: 99%