Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency
Monocarboxylate transporter 8 (MCT8) is a thyroid hormone-specific cell membrane transporter. MCT8 deficiency causes severe psychomotor retardation and abnormal thyroid tests. The great majority of affected children cannot walk or talk, and all have elevated serum T(3) levels, causing peripheral tis...
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| Published in: | The journal of clinical endocrinology and metabolism Vol. 97; no. 12; p. 4515 |
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| Main Authors: | , , , , , , , , , |
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| Language: | English |
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01.12.2012
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| ISSN: | 1945-7197, 1945-7197 |
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| Abstract | Monocarboxylate transporter 8 (MCT8) is a thyroid hormone-specific cell membrane transporter. MCT8 deficiency causes severe psychomotor retardation and abnormal thyroid tests. The great majority of affected children cannot walk or talk, and all have elevated serum T(3) levels, causing peripheral tissue hypermetabolism and inability to maintain weight. Treatment with thyroid hormone is ineffective. In Mct8-deficient mice, the thyroid hormone analog, diiodothyropropionic acid (DITPA), does not require MCT8 to enter tissues and could be an effective alternative to thyroid hormone treatment in humans.
The objective of the study was to evaluate the effect and efficacy of DITPA in children with MCT8 deficiency.
This was a multicenter report of four affected children given DITPA on compassionate grounds for 26-40 months. Treatment was initiated at ages 8.5-25 months, beginning with a small dose of 1.8 mg, increasing to a maximal 30 mg/d (2.1-2.4 mg/kg · d), given in three divided doses.
DITPA normalized the elevated serum T(3) and TSH when the dose reached 1 mg/kg · d and T(4) and rT(3) increased to the lower normal range. The following significant changes were also observed: decline in SHBG (in all subjects), heart rate (in three of four), and ferritin (in one of four). Cholesterol increased in two subjects. There was no weight loss and weight gain occurred in two. None of the treated children required a gastric feeding tube or developed seizures. No adverse effects were observed.
DITPA (1-2 mg/kg · d) almost completely normalizes thyroid tests and reduces the hypermetabolism and the tendency for weight loss. The effects of earlier commencement and long-term therapy remain to be determined. |
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| AbstractList | Monocarboxylate transporter 8 (MCT8) is a thyroid hormone-specific cell membrane transporter. MCT8 deficiency causes severe psychomotor retardation and abnormal thyroid tests. The great majority of affected children cannot walk or talk, and all have elevated serum T(3) levels, causing peripheral tissue hypermetabolism and inability to maintain weight. Treatment with thyroid hormone is ineffective. In Mct8-deficient mice, the thyroid hormone analog, diiodothyropropionic acid (DITPA), does not require MCT8 to enter tissues and could be an effective alternative to thyroid hormone treatment in humans.CONTEXTMonocarboxylate transporter 8 (MCT8) is a thyroid hormone-specific cell membrane transporter. MCT8 deficiency causes severe psychomotor retardation and abnormal thyroid tests. The great majority of affected children cannot walk or talk, and all have elevated serum T(3) levels, causing peripheral tissue hypermetabolism and inability to maintain weight. Treatment with thyroid hormone is ineffective. In Mct8-deficient mice, the thyroid hormone analog, diiodothyropropionic acid (DITPA), does not require MCT8 to enter tissues and could be an effective alternative to thyroid hormone treatment in humans.The objective of the study was to evaluate the effect and efficacy of DITPA in children with MCT8 deficiency.OBJECTIVEThe objective of the study was to evaluate the effect and efficacy of DITPA in children with MCT8 deficiency.This was a multicenter report of four affected children given DITPA on compassionate grounds for 26-40 months. Treatment was initiated at ages 8.5-25 months, beginning with a small dose of 1.8 mg, increasing to a maximal 30 mg/d (2.1-2.4 mg/kg · d), given in three divided doses.METHODSThis was a multicenter report of four affected children given DITPA on compassionate grounds for 26-40 months. Treatment was initiated at ages 8.5-25 months, beginning with a small dose of 1.8 mg, increasing to a maximal 30 mg/d (2.1-2.4 mg/kg · d), given in three divided doses.DITPA normalized the elevated serum T(3) and TSH when the dose reached 1 mg/kg · d and T(4) and rT(3) increased to the lower normal range. The following significant changes were also observed: decline in SHBG (in all subjects), heart rate (in three of four), and ferritin (in one of four). Cholesterol increased in two subjects. There was no weight loss and weight gain occurred in two. None of the treated children required a gastric feeding tube or developed seizures. No adverse effects were observed.RESULTSDITPA normalized the elevated serum T(3) and TSH when the dose reached 1 mg/kg · d and T(4) and rT(3) increased to the lower normal range. The following significant changes were also observed: decline in SHBG (in all subjects), heart rate (in three of four), and ferritin (in one of four). Cholesterol increased in two subjects. There was no weight loss and weight gain occurred in two. None of the treated children required a gastric feeding tube or developed seizures. No adverse effects were observed.DITPA (1-2 mg/kg · d) almost completely normalizes thyroid tests and reduces the hypermetabolism and the tendency for weight loss. The effects of earlier commencement and long-term therapy remain to be determined.CONCLUSIONDITPA (1-2 mg/kg · d) almost completely normalizes thyroid tests and reduces the hypermetabolism and the tendency for weight loss. The effects of earlier commencement and long-term therapy remain to be determined. Monocarboxylate transporter 8 (MCT8) is a thyroid hormone-specific cell membrane transporter. MCT8 deficiency causes severe psychomotor retardation and abnormal thyroid tests. The great majority of affected children cannot walk or talk, and all have elevated serum T(3) levels, causing peripheral tissue hypermetabolism and inability to maintain weight. Treatment with thyroid hormone is ineffective. In Mct8-deficient mice, the thyroid hormone analog, diiodothyropropionic acid (DITPA), does not require MCT8 to enter tissues and could be an effective alternative to thyroid hormone treatment in humans. The objective of the study was to evaluate the effect and efficacy of DITPA in children with MCT8 deficiency. This was a multicenter report of four affected children given DITPA on compassionate grounds for 26-40 months. Treatment was initiated at ages 8.5-25 months, beginning with a small dose of 1.8 mg, increasing to a maximal 30 mg/d (2.1-2.4 mg/kg · d), given in three divided doses. DITPA normalized the elevated serum T(3) and TSH when the dose reached 1 mg/kg · d and T(4) and rT(3) increased to the lower normal range. The following significant changes were also observed: decline in SHBG (in all subjects), heart rate (in three of four), and ferritin (in one of four). Cholesterol increased in two subjects. There was no weight loss and weight gain occurred in two. None of the treated children required a gastric feeding tube or developed seizures. No adverse effects were observed. DITPA (1-2 mg/kg · d) almost completely normalizes thyroid tests and reduces the hypermetabolism and the tendency for weight loss. The effects of earlier commencement and long-term therapy remain to be determined. |
| Author | Weiss, Roy E Dumitrescu, Alexandra M Marcinkowski, Teresa Cohen, Michal Hameed, Shihab Konrad, Daniel Verge, Charles F Di Cosmo, Caterina Hamilton, Jill Refetoff, Samuel |
| Author_xml | – sequence: 1 givenname: Charles F surname: Verge fullname: Verge, Charles F organization: Department of Endocrinology, Sydney Children's Hospital, Randwick, NSW 2031, Australia – sequence: 2 givenname: Daniel surname: Konrad fullname: Konrad, Daniel – sequence: 3 givenname: Michal surname: Cohen fullname: Cohen, Michal – sequence: 4 givenname: Caterina surname: Di Cosmo fullname: Di Cosmo, Caterina – sequence: 5 givenname: Alexandra M surname: Dumitrescu fullname: Dumitrescu, Alexandra M – sequence: 6 givenname: Teresa surname: Marcinkowski fullname: Marcinkowski, Teresa – sequence: 7 givenname: Shihab surname: Hameed fullname: Hameed, Shihab – sequence: 8 givenname: Jill surname: Hamilton fullname: Hamilton, Jill – sequence: 9 givenname: Roy E surname: Weiss fullname: Weiss, Roy E – sequence: 10 givenname: Samuel surname: Refetoff fullname: Refetoff, Samuel |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/22993035$$D View this record in MEDLINE/PubMed |
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| SubjectTerms | Brain - drug effects Brain - growth & development Cardiotonic Agents - therapeutic use Child Development - drug effects Child, Preschool Compassionate Use Trials Diiodothyronines - therapeutic use Diseases in Twins - blood Diseases in Twins - drug therapy Diseases in Twins - physiopathology Humans Infant Male Mental Retardation, X-Linked - blood Mental Retardation, X-Linked - drug therapy Mental Retardation, X-Linked - physiopathology Monocarboxylic Acid Transporters - deficiency Multicenter Studies as Topic Muscle Hypotonia - blood Muscle Hypotonia - drug therapy Muscle Hypotonia - physiopathology Muscular Atrophy - blood Muscular Atrophy - drug therapy Muscular Atrophy - physiopathology Propionates - therapeutic use Psychomotor Performance - drug effects Psychomotor Performance - physiology Thyroid Function Tests |
| Title | Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency |
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