Rare Disease Library

Hypermethioninemia encephalopathy due to adenosine kinase deficiency

ADK hypermethioninemia · Hypermethioninemia encephalopathy due to ADK deficiency

Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate

Acute reversible leukoencephalopathy due to SLC13A3 deficiency · Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

Congenital hyperinsulinism due to HNF4A deficiency

Hyperinsulinemic hypoglycemia due to HNF4A deficiency

Delayed encephalopathy due to carbon monoxide poisoning

Delayed encephalopathy due to CO poisoning

Encephalopathy due to prosaposin deficiency

Combined prosaposin deficiency

Encephalopathy due to sulfite oxidase deficiency

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

CA-VA deficiency

Hyperinsulinism due to HNF1A deficiency

Hyperinsulinemic hypoglycemia due to HNF1A deficiency

Hyperinsulinism due to INSR deficiency

Hyperinsulinemic hypoglycemia due to INSR deficiency · Hyperinsulinemic hypoglycemia due to insulin receptor deficiency

Hyperinsulinism due to UCP2 deficiency

Hyperinsulinemic hypoglycemia due to UCP2 deficiency

Hyperlipidemia due to hepatic triacylglycerol lipase deficiency

Hyperlipidemia due to hepatic lipase deficiency · Hyperlipidemia due to HL deficiency

Hypermethioninemia due to glycine N-methyltransferase deficiency

Glycine N-methyltransferase deficiency · Hypermethioninemia due to GNMT deficiency

Hyperphenylalaninemia due to DNAJC12 deficiency

Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Hyperphenylalaninemia due to BH4 deficiency

Neonatal epileptic encephalopathy due to glutaminase deficiency

Progressive encephalopathy with leukodystrophy due to DECR deficiency

2,4-dienoyl-CoA reductase deficiency · DECR deficiency with hyperlysinemia

Pterin-4 alpha-carbinolamine dehydratase deficiency

Hyperphenylalaninemia due to dehydratase deficiency · Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency

Tyrosinemia type 3

Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency · Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency

Urocanic aciduria

Encephalopathy due to urocanase deficiency