Biomaterial Database

Familial hyperbilirubinemia in Friedreich's ataxia. 1978

E Hamel, and D Bedard, and F Laviolette, and R F Butterworth, and A Barbeau

The combined metabolic stresses of fasting and the intravenous injection of 50 mg nicotinic acid in Friedreich's ataxia resulted in the delineation of two sub-groups of responses. High bilirubin ataxics maintained abnormally elevated levels of bilirubin, while normal bilirubin ataxics behaved like the normal control group. It is postulated that this finding infers the possible linkage of the gene for Friedreich's ataxia and that for Gilbert's disease.

UI	MeSH Term	Description	Entries
D005621	Friedreich Ataxia	An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)	Friedreich Disease,Hereditary Spinal Sclerosis,Sclerosis, Hereditary Spinal,Friedreich Familial Ataxia,Friedreich Hereditary Ataxia,Friedreich Hereditary Spinal Ataxia,Friedreich Spinocerebellar Ataxia,Friedreich's Ataxia,Friedreich's Disease,Friedreich's Familial Ataxia,Friedreich's Hereditary Ataxia,Friedreich's Hereditary Spinal Ataxia,Hereditary Spinal Ataxia, Friedreich,Hereditary Spinal Ataxia, Friedreich's,Ataxia, Friedreich,Ataxia, Friedreich Familial,Ataxia, Friedreich Hereditary,Ataxia, Friedreich Spinocerebellar,Ataxia, Friedreich's,Ataxia, Friedreich's Familial,Ataxia, Friedreich's Hereditary,Ataxias, Friedreich,Ataxias, Friedreich's Hereditary,Disease, Friedreich,Disease, Friedreich's,Familial Ataxia, Friedreich,Familial Ataxia, Friedreich's,Friedreich Ataxias,Friedreich's Hereditary Ataxias,Friedreichs Familial Ataxia,Friedreichs Hereditary Ataxia,Hereditary Ataxia, Friedreich,Hereditary Ataxia, Friedreich's,Hereditary Ataxias, Friedreich's,Hereditary Spinal Scleroses,Scleroses, Hereditary Spinal,Spinal Scleroses, Hereditary,Spinal Sclerosis, Hereditary,Spinocerebellar Ataxia, Friedreich
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006933	Hyperbilirubinemia, Hereditary	Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood.	Rotor Syndrome,Hyperbilirubinemia, Rotor Type,Hereditary Hyperbilirubinemia,Hereditary Hyperbilirubinemias,Hyperbilirubinemias, Hereditary,Rotor Type Hyperbilirubinemia,Syndrome, Rotor
D001663	Bilirubin	A bile pigment that is a degradation product of HEME.	Bilirubin IX alpha,Bilirubin, (15E)-Isomer,Bilirubin, (4E)-Isomer,Bilirubin, (4E,15E)-Isomer,Bilirubin, Calcium Salt,Bilirubin, Disodium Salt,Bilirubin, Monosodium Salt,Calcium Bilirubinate,Hematoidin,delta-Bilirubin,Bilirubinate, Calcium,Calcium Salt Bilirubin,Disodium Salt Bilirubin,Monosodium Salt Bilirubin,Salt Bilirubin, Calcium,delta Bilirubin