Rare Disease Database

Systemic Primary Carnitine Deficiency

Also known as: carnitine transporter deficiency carnitine uptake defect carnitine uptake deficiency CUD CDSP

Carnitine Palmitoyltransferase 1A Deficiency

Also known as: CPT 1A deficiency hepatic carnitine palmitoyltransferase 1 deficiency hepatic CPT1 L-CPT1 deficiency

Biotinidase Deficiency

Also known as: BTD deficiency infantile multiple carboxylase deficiency juvenile multiple carboxylase deficiency late-onset multiple carboxylase deficiency multiple carboxylase deficiency, due to biotinidase deficiency delayed-onset biotinidase deficiency profound biotinidase deficiency partial biotinidase deficiency

Cytochrome C Oxidase Deficiency

Also known as: complex IV deficiency COX deficiency deficiency of mitochondrial respiratory chain complex IV

Adenylosuccinate Lyase Deficiency

Also known as: adenylosuccinase deficiency succinylpurinemic autism ADSL deficiency

PCSK1 Deficiency

Also known as: obesity due to prohormone convertase deficiency obesity and endocrinopathy due to impaired processing of prohormones proprotein convertase 1/3 deficiency proprotein convertase-1 deficiency PC 1 deficiency prohormone convertase 1 deficiency

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Carbamoyl Phosphate Synthetase 1 Deficiency

Also known as: carbamoylphosphatase deficiency I carbamoyl phosphate synthetase deficiency carbamylphosphatase deficiency I carbamyl phosphate synthetase I CPSID CPS1 deficiency

Medium Chain Acyl CoA Dehydrogenase Deficiency

Also known as: MCAD deficiency ACADM deficiency MCADH deficiency medium chain acyl-coenzyme A dehydrogenase deficiency MCADD

Pyruvate Carboxylase Deficiency

Also known as: ataxia with lactic acidosis, type II PC deficiency

Short Chain Acyl CoA Dehydrogenase Deficiency

Also known as: SCAD deficiency SCAD deficiency, adult-onset (localized) SCAD deficiency, congenital (generalized) SCADH deficiency SCADD

Tetrahydrobiopterin Deficiency

Also known as: BH4-deficient hyperphenylalaninemia

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Protein C Deficiency

Also known as: Hereditary thrombophilia due to protein C deficiency PROC deficiency

Factor X Deficiency

Also known as: congenital factor X deficiency congenital Stuart factor deficiency F10 deficiency Stuart-Power factor deficiency

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Riboflavin Transporter Deficiency

Also known as: Brown-Vialetto-Van Laere syndrome Fazio-Londe syndrome riboflavin transporter deficiency neuronopathy

Cerebral Folate Deficiency

Also known as: cerebral folate deficiency syndrome cerebral folate transport deficiency FOLR1 deficiency neurodegeneration due to cerebral folate transport deficiency

Aromatic L-Amino Acid Decarboxylase Deficiency

Also known as: aromatic amino acid decarboxylase deficiency AADC deficiency AADCD DOPA decarboxylase deficiency DDC deficiency