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Tyrosinemia Type 2 (or Richner-Hanhart Syndrome)
smpdb.ca/view/SMP0000369DiseaseTyrosinemia II also known as Richner-Hanhart syndrome is an autosomal recessive disorder caused by a mutation in the TAT gene the encodes for tyrosine aminotransferase. A defect in this enzyme causes excess tyrosine to accumulate in the ...
Drugs: Pyridoxal phosphate · Phenylalanine · Adenosine phosphate · Tyrosine · Glutamic acid · ATP +11 moreTyrosinemia Type 3 (TYRO3)
smpdb.ca/view/SMP0000370DiseaseTyrosinemia type 3, one of the three types of tyrosinemia, is a rare disorder with only a few reported cases. Tyrosinemia type 3 results from a defect in the HPD gene which codes for 4-hydroxyphenylpyruvate dioxygenase. 4-Hydroxyphenylpy...
Drugs: Pyridoxal phosphate · Phenylalanine · Adenosine phosphate · Tyrosine · Glutamic acid · ATP +11 moreDesmosterolosis
smpdb.ca/view/SMP0000386DiseaseDesmosterolosis is caused by a mutation in the DHCR24 gene, which codes for the enzyme 24-dehydrocholesterol reductase, which catalyzes the reduction of the delta-24 double bond of sterol intermediates. A defect in 24-dehydrocholesterol ...
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 moreCHILD Syndrome
smpdb.ca/view/SMP0000387DiseaseCHILD Syndrome, (Congenital Hemidysplasia with Icthyosiform Erythroderma and Limb Defects; Ichthyosiform Eruthroderma, Unilateral, with Epsilateral Malformations, Especially Absence Deformity of Limbs) is caused by a mutation in the gene...
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 moreSmith-Lemli-Opitz Syndrome (SLOS)
smpdb.ca/view/SMP0000389DiseaseThe autosomal recessive disorder Smith-Lemli-Opitz Syndrome (SLOS; SLO Syndrome; RSH; Rutledge Lethal Multiple Congenital Anomaly, Syndrome; Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung; Lethal Acrodysgenital Syndrome) ...
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 morePhytanic Acid Peroxisomal Oxidation
smpdb.ca/view/SMP0000450MetabolicPhytanic acid, a branched chain fatty acid, is an important component of fatty acid intake, occuring in meat, fish and dairy products. Due to its methylation, it cannot be a substrate for acyl-CoA dehydrogenase and cannot enter the mitoc...
Tyrosinemia, Transient, of the Newborn
smpdb.ca/view/SMP0000494DiseaseA transient defect in tyrosine metabolism is a common aminoacidopathy in the premature and full-term human infant. This disorder, termed neonatal tyrosinemia, was first described by Levine and Gordon in 1939. In the intervening years oth...
Drugs: Pyridoxal phosphate · Ademetionine · Ascorbic acid · Aspartic acid · Tyrosine · Glutamic acid +20 moreDopamine beta-Hydroxylase Deficiency
smpdb.ca/view/SMP0000498DiseaseDopamine beta-hydroxylase deficiency (or norepinephrine deficiency) is caused by mutation in the gene encoding dopamine beta-hydroxylase. Clinical features include orthostatic hypotension, ptosis, nasal stuffiness, and a neonatal history...
Drugs: Pyridoxal phosphate · Ademetionine · Ascorbic acid · Aspartic acid · Tyrosine · Glutamic acid +20 moreHypophosphatasia
smpdb.ca/view/SMP0000503DiseaseInfantile hypophosphatasia, also called I-HPP, is a severe, rare and fatal metabolic bone disease and an inborn error of metabolism. I-HPP is caused by a defective alkaline phosphatase, tissue-nonspecific isozyme, which catalyzes the con...
Drugs: Pyridoxal phosphate · Pyridoxal · Pyridoxine · Magnesium cation · Zinc · Pyridoxamine-5'-Phosphate +3 moreCholesteryl Ester Storage Disease
smpdb.ca/view/SMP0000508DiseaseLysosomal acid lipase deficiency, also called cholesteryl ester storage disease [CESD], LIPA deficiency or Wolman disease, is a rare autosomal recessive inborn error of metabolism. It's caused by not enough lysosomal acid lipase enzyme i...
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 more