What is Refetoff syndrome (GTHR) This congenital genetic disorder is an autosomal recessive form of thyroid hormone resistance This condition is caused by mutation in the thyroid hormone receptor gene, as is selective pituitary resistance to thyroid hormone Synonyms Deafness-thyroid hormone resistance syndrome Generalized resistance to thyroid hormone GTHR Thyroid Hormone Unresponsiveness Epidemiology 40 cases …
What is HSD10 disease (Alpha Methyacetoacetic Aciduria) HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy. This condition is also known as the Alpha Methyacetoacetic Aciduria Synonyms 2-methyl-3-Hydroxybutyric AcidemiaBeta-Kethothiolase DeficiencyMitochondrial Acetoacetyl-CoA Thiolase DeficiencyMat DeficiencyT2 Deficiency 3-Oxothiolase Deficiency 3-Kethothiolase Deficiency MHBD deficiency 3-KTD Deficiency Prevalence of …
What is Alpha aminoadipic aciduria (2 aminoadipic 2 oxoadipic aciduria) (AMOXAD) This congenital genetic disease is a rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation 2 aminoadipic 2 oxoadipic aciduria is caused by compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14. Synonyms 2 aminoadipic 2 oxoadipic aciduria AMOXAD Prevalence …
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What is Adenine phosphoribosyltransferase deficiency (APRT Deficiency) (2 8 dihydroxyadenine urolithiasis) Adenine phosphoribosyltransferase deficiency is caused by homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase on chromosome 16q24. APRT deficiency is an autosomal recessive metabolic disorder that can lead to accumulation of the insoluble purine 2 8 dihydroxyadenine (DHA) in the kidney, …
What is 2 4 dienoyl CoA reductase deficiency (Progressive encephalopathy with leukodystrophy due to DECR deficiency) 2 4 dienoyl CoA reductase deficiency is a rare mitochondrial disease due to Decreased activity of NADPH resulting in nadph deficiency This condition is caused by homozygous mutation in the NADK2 gene on chromosome 5p13. Synonyms Progressive encephalopathy with …
What is Vitamin D Dependent Rickets type 1A (1 alpha hydroxylase deficiency) (VDDR1A) Vitamin D Dependent Rickets type 1A is due to a defect in certain enzymes which are responsible for the synthesis of the active form of vitamin D. This condition is caused by a mutation in the CYP27B1 gene. Synonyms 1 alpha hydroxylase …
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What is Fetal Alcohol Syndrome (FAS) Fetal alcohol syndrome is a group of birth defects that are caused when an unborn baby (fetus) is exposed to alcohol during pregnancy. Possible symptoms include a variety of mental and physical problems. FAS is a lifelong (chronic) condition. Symptoms can vary from mild to severe. 3 Interesting Facts …