Hooft disease

Overview

A rare disorder characterized by mental and physical retardation, red rash and low blood lipid level

Symptoms

* Thin hair * Singed hair * Dry hair * Abnormal teeth * Low blood lipid level * Red rash * Opaque leukonychia * Tapetoretinal degeneration * Mental retardation * Growth delay * Indoluria * Increased amino acids in urine

Causes

1. Grossmotor delay 1. Cerebralpalsy 2. Neuromuscular disorders 2. Delayed or impaired language 1. Impairedhearing 2. Receptive and expressive language disorders 3. Pervasive developmental disorders 3. Static global delay 1. Chromosomaldisturbances 2. Maternal or infant undernutrition 3. Maternal drug or alcohol use 4. Cerebral malformation 5. Hypoxic-ischemic encephalopathy 6. Intracranial hemorrhage 7. Infection 8. Brain tumor 9. Cerebrovascular disorders 10. Psychologic disturbances 11. Unknown 4. Progressive global delay 1. Neurocutaneousdisorders 1. Tuberoussclerosis 2. Neurofibromatosis 2. Metabolic brain disorders 1. Diseasesprimarily affecting gray matter (without visceral storage) 1. GM-2 gangliosidosis(Tay-Sachs disease) 2. Neuronal ceroid lipofuscinoses 3. Alpers disease 4. Menkes disease 5. Rett syndrome 2. Diseases primarily affecting gray matter(with visceral storage) 1. GM-1 gangliosidosis 2. GM-2 gangliosidosis (Sandhoff disease) 3. Niemann-Pick disease 4. Gaucher disease 5. Fucosidosis 6. Sialidosis type II 3. Diseases primarily affecting whitematter 1. Galactosemia 2. Phenylketonuria 3. Maple syrup urine disease (intermediate) 4. Homocystinuria 5. Urea cycle defects 6. Canavan disease 7. Alexander disease 8. Globoid leukodystrophy (Krabbe disease) 9. Pelizaeus-Merzbacher disease 10. Metachromatic leukodystrophy 4. Diseases affecting both gray and whitematter 1. Mucopolysaccharidoses 1. Mucopolysaccharidosistype I (Hurler disease) 2. Mucopolysaccharidosis type II (Hunterdisease) 3. Mucopolysaccharidosis type III (Sanfilippodisease) 4. Mucopolysaccharidosis type VII (Slydisease) 2. Mitochondrial disorders 3. Peroxisomal disorders 5. Miscellaneous 1. Lesch-Nyhan syndrome 3. Congenital hypothyroidism 4. Human immunodeficiency virus infection