What do they have in common?
Zellweger syndrome, galactokinase deficiency, PHARC syndrome
What are causes of cataracts?
C8-carnitine
What is medium chain acyl-CoA dehydrogenase deficiency (MCADD)?
Erlenmeyer flask anomaly
What is Gaucher disease?
Progressive "step-wise" neurologic deterioration, necrotizing encephalopathy
What is Leigh syndrome?
Hypoglycorrhachia
What is GLUT1 deficiency?
Niemann-Pick A/B, galactosialidosis, GM1 gangliosidosis, GM2 gangliosidosis, Farber disease
What are causes of macular cherry red-spot?
C14:1-carnitine
What is very-long chain acyl-CoA dehydrogenase deficiency (VLCADD)?
Second-wind phenomenon
What is McArdle disease (GSD V, myophosphorylase deficiency)?
Epilepsy, kinky hair, rib fractures, subdural hematomas
What is Menkes disease?
Keratan sulfate
What is Morquio syndrome?
Tyrosinemia type I, cystinosis, Lowe syndrome, HFI
What are causes of Fanconi syndrome / renal tubulopathy?
C5DC-carnitine
What is glutaric aciduria type I?
Fishy body odor
What is trimethylaminuria?
Abnormal movements, elevated uric acid, automutilation
What is Lesch-Nyhan syndrome?
Elevated lysosomal enzymatic activity in plasma
What is mucolipidosis type II / III (I-cell, pseudo-Hurler)?
Lesch-Nyhan syndrome, Menkes disease, ornithine transcarbamylase deficiency
What disorders are caused by X-linked inheritance?
Elevated arginine
What is arginase deficiency?
Bitemporal hypoplasia with enlarged Sylvian fissures
What is glutaric aciduria type I?
Neuropathy, intestinal pseudoocclusion, leukoencephalopathy
What is MNGIE syndrome?
Absent acid alpha-glucosidase activity
What is Pompe disease (GSD II, acid maltase deficiency)?
Lysinuric protein intolerance, Niemann-Pick type B, Gaucher disease
What are causes of interstitital pneumopathy?
Low C0 / C16 + C18
What is carnitine palmytoyltransferase I (CPT I) deficiency?
Hemidysplasia with ichthyosiform naevi
What is CHILD syndrome?
Sleep issues, progressive behavioral problems, mildly coarse facial features
What is Sanfilippo syndrome (MPS III)?
Elevated phytanic acid, decreased pristanic acid
What is Refsum disease?