What do they have in common?
Fucosidosis, beta-mannosidosis, Fabry disease
What are causes of angiokeratomas?
L444P (p.Leu483Pro)
What is Gaucher disease?
Sweaty feet odor
What is isovaleric acidemia?
Myoclonic epilepsy, ragged red fibers
What is MERRF?
Hexanoylglycine
What is medium-chain acyl-CoA dehydrogenase deficiency (MCAD)?
Sjogren-Larsson syndrome, Gaucher type II, Chanarin Dormann syndrome
What are causes of ichthyosis?
m.3243A>G
What is MELAS?
Sweet smelling cerumen
What is maple syrup urine disease?
2-3 toe Y-shaped syndactyly, IUGR, genital anomalies
What is Smith-Lemli-Opitz syndrome?
Succinylacetone
What is tyrosinemia type I?
Fabry disease, propionic acidemia, Barth syndrome
What are causes of cardiomyopathy?
Q188R
What is classic galactosemia?
Adrenal calcifications
What is Wolman disease (lysosomal acid lipase deficiency)?
Large fontanelle, renal cysts, hepatomegaly
What are Zellweger spectrum disorders?
Alloisoleucine
What is maple syrup urine disease?
Tyrosinemia type I, Wilson disease, cholesterol ester storage disease, GSD IV
What are causes of cirrhosis?
N314D
What is Duarte variant galactosemia?
Vertical supranuclear gaze palsy
What is Niemann-Pick type C?
Diarrhea, cataracts, tendinous xanthomas
What is cerebrotendinous xanthomatosis?
Lyso-C26:0 phosphatidylcholine, isolated
What is X-linked adrenoleukodystrophy?
Proline synthetic defects, Menkes disease, COG7-CDG
What are causes of cutis laxa / skin laxity?
S135L
What is clinical variant galactosemia?
White matter involvement of the posterior regions
What is X-linked adrenoleukodystrophy?
Pigmentary retinopathy, progressive external ophthalmoplegia, cardiac conduction anomalies, elevated lactate
What is Kearns-Sayre syndrome?
Gamma-hydroxybutyrate
What is succinic semialdehyde dehydrogenase deficiency (SSADH)?