Table 1: Rare Diseases Involving PLP-enzymes

Rare Disease Involved Enzyme Main Symptoms
Aromatic L-amino acid decarboxylase deficiency [61] DOPA decarboxylase delay in development, abnormal movements, oculogyric crisies, vegetative symptoms
Cystathioninuria [69] Cystathionine-γ-lyase abnormal urinary excretion of cystathionine, fibrotic liver
GABA-transaminase deficiency [70] γ-aminobutyric acid-transaminase hyperreflexia, hypotonia, lethargia, macrosomia, mental retardation, and siezures
Gilles de la tourette syndrome [71] Histidine decarboxylase arm thrusting, eye blinking, repeated throat clearing or sniffing, shoulder shrugging
Glycine encephalopathy [72] P protein (a pyridoxal phosphate-dependent glycine decarboxylase) mental retardation, hypotonia, seizures, brain malformations, ataxia
Hereditary sensory and autonomic neuropathy Type I [73] Serine palmitoyltransferase sensory deficit in the distal portion of the lower extremities, chronic perforating ulcerations of the feet and progressive destruction of underlying bones, sweating
Homocystinuria [74] Cystathionina-β-syntase high level of homocysteine, endothelial injury, isk of other artery or vein diseases
Ornithine aminotransferase deficiency (Gyrate atrophy) [75] Ornithine aminotransferase poor vision at night or in dim light, peripheral vision loss
Primary hyperoxaluria Type I [76] Alanine:glyoxylate aminotransferase oxalosis, nephrocalcinosis urolithiasis, nephrolithiasis, kidney stones
Smith-Magenis syndrome [77] Serine hydroxymethyltransferase square-shaped face with deep-set eyes, engaging personalities, short stature, scoliosis, reduced sensitivity to pain and temperature, and a hoarse voice
Stiff-Man Syndrome [78] Glutamic Acid Decarboxylase muscle rigidity that waxes and wanes with concurrent spasms, encephalomyelitis, epilepsy, cerebral palsy, or cerebellar deficits
Type II Tyrosinemia (Richner-Hanhart syn-drome) [79] Tyrosine aminotransferase excessive tearing, photophobia, eye pain and redness, and painful skin lesions on the palms and soles, mental retardation
Xanthurenic aciduria [80] L-Kynurenine hydrolase vomiting, jaundice, high excretion of Xanthurenic acid
"X-linked" sideroblastic anemia [81] δ-aminolevulinate synthase microcytic red blood cells hypochromic an abnormal accumulation of iron in red blood cells