Rare Diseases

Alpha aminoadipic aciduria (2 aminoadipic 2 oxoadipic aciduria) (AMOXAD)

Rare Diseases / By

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 …

Alpha aminoadipic aciduria (2 aminoadipic 2 oxoadipic aciduria) (AMOXAD) Read More »

Adenine phosphoribosyltransferase deficiency (APRT Deficiency) (2 8 dihydroxyadenine urolithiasis)

Rare Diseases / By

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, …

Adenine phosphoribosyltransferase deficiency (APRT Deficiency) (2 8 dihydroxyadenine urolithiasis) Read More »

2 4 dienoyl CoA reductase deficiency (Progressive encephalopathy with leukodystrophy due to DECR deficiency)

Rare Diseases / By

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 …

2 4 dienoyl CoA reductase deficiency (Progressive encephalopathy with leukodystrophy due to DECR deficiency) Read More »

Vitamin D Dependent Rickets type 1A (1 alpha hydroxylase deficiency) (VDDR1A)

Rare Diseases / By

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 …

Vitamin D Dependent Rickets type 1A (1 alpha hydroxylase deficiency) (VDDR1A) Read More »

15585

Sign up to receive the trending updates and tons of Health Tips

Join SeekhealthZ and never miss the latest health information

15856